DMD (Dystrophin) variants and mutations
DMD (also known as Dystrophin) is a human protein-coding gene encoding a dystrophin protein. Its dystrophin product mechanically links the actin cytoskeleton of muscle fibers to the extracellular matrix and stabilizes the sarcolemma during contraction. Severe loss causes Duchenne muscular dystrophy, while variants preserving partial function more often cause Becker muscular dystrophy. This analysis covers 5,876 DMD variants and mutations. Of these, 61% have computational variant effect predictions. Disease context includes Duchenne muscular dystrophy, Becker muscular dystrophy, and dilated cardiomyopathy 3B. Example DMD variants include M1L, L2F, and W3*.
Variant analysis overview
- Gene: DMD
- Protein: Dystrophin
- UniProt accession: P11532
- Organism: Homo sapiens
- Variants analyzed: 5876
- Variant scope: all variants
- Completed: 2026-08-09
Variant and mutation evidence
- Variant composition: 5,722 unspecified-consequence records; 5 stop lost; 91 missense variants; 39 synonymous variants; 6 in-frame deletions; 8 frameshift variants; 1 stop-gained variants; 1 splice-region variants; 3 substitution
- Prediction scores: 3,607 variants have prediction scores (61% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Duchenne muscular dystrophy, Becker muscular dystrophy, dilated cardiomyopathy 3B, muscular dystrophy, familial isolated dilated cardiomyopathy, progressive muscular dystrophy, neuromuscular disease caused by qualitative or quantitative defects of dystrophi, Abnormality of the cardiovascular system, cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormality of the musculature, myopathy.
Protein structure and variant hotspots
- Protein features: 3 domains; 4 binding sites; 18 post-translational modification sites.
- Structural context: 393 variants have structural context.
- PTM context: 28 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable DMD variants
Examples include M1L, L2F, W3*, W4*, W4G, E6*, V7A, E8*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs2148864234, ClinVar RCV006588614, MetaLR 0.12, MetaSVM -0.99, Pathogenic, Duchenne muscular dystrophy
- L2F (p.Leu2Phe), gnomAD rs1307612793, REVEL 0.10, CADD 24.40
- W3* (p.Trp3Ter), rs398122853, ClinGen CA259713, ClinVar RCV000022854, ClinVar RCV000173322, CADD 36.00, Pathogenic
- W4* (p.Trp4Ter), Ensembl rs2148864187, Pathogenic
- W4G (p.Trp4Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E6* (p.Glu6Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- V7A (p.Val7Ala), ExAC rs765870891, TOPMed rs765870891, gnomAD rs765870891, REVEL 0.07, CADD 16.80
- E8* (p.Glu8Ter), NCI-TCGA Cosmic COSV9992, cosmic curated COSV99923, Variant assessed as somatic; high impact.
- E8D (p.Glu8Asp), rs1330369801, ClinGen CA412675118, ClinVar RCV002015759, ClinVar RCV006458874, REVEL 0.37, CADD 15.10, Likely benign
- E8K (p.Glu8Lys), rs2148864111, ClinGen CA412675124, ClinVar RCV002008777, Ensembl rs2148864111, AlphaMissense 0.28, MetaLR 0.80, Uncertain significance
- D9E (p.Asp9Glu), rs1470154494, ClinGen CA412675109, ClinVar RCV002441540, TOPMed rs1470154494, REVEL 0.14, CADD 18.10, Uncertain significance, Cardiovascular phenotype
- C10* (p.Cys10Ter), rs2521941756, ClinGen CA412675103, ClinVar RCV003835003, ClinVar RCV005637080, Pathogenic
- C10S (p.Cys10Ser), rs794726909, ClinGen CA238779, ClinVar RCV000173316, ClinVar RCV000797337, REVEL 0.21, CADD 15.20, Uncertain significance
- Y11H (p.Tyr11His), NCI-TCGA Cosmic COSV5586, cosmic curated COSV55863, CADD 18.40, SIFT 1.00, Variant assessed as somatic; moderate impact.
- E12* (p.Glu12Ter), NCI-TCGA Cosmic COSV9992, cosmic curated COSV99926, Variant assessed as somatic; high impact.
- E12K (p.Glu12Lys), ExAC rs759615251, gnomAD rs759615251, REVEL 0.84, MetaLR 0.95
- E12Q (p.Glu12Gln), ExAC rs759615251, gnomAD rs759615251, REVEL 0.77, MetaLR 0.93
- R13K (p.Arg13Lys), rs587780918, ClinGen CA290627, ClinVar RCV000124717, ClinVar RCV005614382, AlphaMissense 0.26, MetaLR 0.89, Benign
- E14K (p.Glu14Lys), gnomAD rs1389235987, REVEL 0.65, MetaLR 0.85
- D15H (p.Asp15His), rs876657780, ClinGen CA10577170, ClinVar RCV000215055, ClinVar RCV001833199, REVEL 0.58, MetaLR 0.88, Benign
- Q17* (p.Gln17Ter), Ensembl rs2147755458
- K18N (p.Lys18Asn), rs2093886366, ClinGen CA412675298, ClinVar RCV001348440, UniProt VAR 023537, AlphaMissense 0.94, MetaLR 0.93, Pathogenic, in CMD3B
- T20A (p.Thr20Ala), ExAC rs774357500, gnomAD rs774357500, REVEL 0.82, AlphaMissense 0.80, Uncertain significance, Duchenne muscular dystrophy
- T20P (p.Thr20Pro), rs774357500, ClinGen CA412675289, ClinVar RCV002444409, AlphaMissense 0.80, MetaLR 0.92, Uncertain significance, Duchenne muscular dystrophy
- F21S (p.Phe21Ser), Ensembl rs398124010, REVEL 0.90, MetaLR 0.98
- T22K (p.Thr22Lys), NCI-TCGA TCGA novel, Ensembl rs1602766324, REVEL 0.89, MetaLR 0.92, Variant assessed as somatic; moderate impact.
- K23T (p.Lys23Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W24* (p.Trp24Ter), Ensembl rs2147755113, Pathogenic
- W24R (p.Trp24Arg), rs2527804930, ClinGen CA412675262, ClinVar RCV003153118, Uncertain significance, Duchenne muscular dystrophy
- V25A (p.Val25Ala), rs886039061, ClinGen CA10587980, ClinVar RCV000248930, ClinVar RCV000393621, REVEL 0.61, MetaLR 0.82, Uncertain significance
- N26D (p.Asn26Asp), rs1057521321, ClinGen CA16608458, ClinVar RCV000439606, ClinVar RCV000762617, REVEL 0.81, AlphaMissense 0.69, Likely benign
- N26H (p.Asn26His), rs1057521321, ClinGen CA412675248, ClinVar RCV000699928, Ensembl rs1057521321, AlphaMissense 0.69, MetaLR 0.97, Likely benign
- N26K (p.Asn26Lys), rs794727272, ClinGen CA241527, ClinVar RCV000175769, ClinVar RCV003335178, AlphaMissense 0.94, MetaLR 0.96, Likely pathogenic
- A27E (p.Ala27Glu), rs763407275, ClinGen CA412675241, NCI-TCGA Cosmic COSV9991, cosmic curated COSV99919, REVEL 0.71, MetaLR 0.78, Uncertain significance
- A27P (p.Ala27Pro), rs886043234, ClinGen CA10605273, ClinVar RCV000358079, ClinVar RCV001859634, AlphaMissense 0.98, MetaLR 0.89, Likely pathogenic
- A27V (p.Ala27Val), rs763407275, ClinGen CA10380272, ClinVar RCV001301338, ClinVar RCV001835442, REVEL 0.48, MetaLR 0.81, Uncertain significance
- Q28* (p.Gln28Ter), cosmic curated COSV10730, gnomAD rs1477536019, Uncertain significance
- Q28E (p.Gln28Glu), rs1477536019, ClinGen CA412675237, ClinVar RCV002046462, gnomAD rs1477536019, REVEL 0.71, MetaLR 0.91, Uncertain significance
- Q28P (p.Gln28Pro), rs2527804610, ClinGen CA412675236, ClinVar RCV002996023, Uncertain significance, Duchenne muscular dystrophy
- S30L (p.Ser30Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K31E (p.Lys31Glu), rs886044521, ClinGen CA10606862, ClinVar RCV000301034, ClinVar RCV001859721, AlphaMissense 0.40, MetaLR 0.86, Uncertain significance
- F32L (p.Phe32Leu), rs201790047, ClinGen CA328578641, ClinVar RCV002982882, TOPMed rs201790047, REVEL 0.23, MetaLR 0.56, Uncertain significance, Duchenne muscular dystrophy
- F32S (p.Phe32Ser), rs2080986752, ClinGen CA412675008, ClinVar RCV001034973, ClinVar RCV001274388, AlphaMissense 0.14, MetaLR 0.42, Uncertain significance
- F32Y (p.Phe32Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G33A (p.Gly33Ala), NCI-TCGA Cosmic COSV9991, Variant assessed as somatic; moderate impact.
- G33W (p.Gly33Trp), NCI-TCGA Cosmic COSV5586, cosmic curated COSV55864, REVEL 0.85, MetaLR 0.93, Variant assessed as somatic; moderate impact.
- K34* (p.Lys34Ter), rs1557084280, ClinGen CA412674996, ClinVar RCV000711445, Ensembl rs1557084280, AlphaMissense 0.28, MetaLR 0.76, Pathogenic
- K34E (p.Lys34Glu), rs1557084280, ClinGen CA412674997, ClinVar RCV000592652, ClinVar RCV001372859, REVEL 0.49, AlphaMissense 0.28, Pathogenic
- Q35* (p.Gln35Ter), rs2149015656, ClinGen CA412674988, cosmic curated COSV10608, ClinVar RCV001781953, Pathogenic
- Q35P (p.Gln35Pro), rs1477107648, ClinGen CA412674986, ClinVar RCV000731591, ClinVar RCV001221297, REVEL 0.43, MetaLR 0.52, Uncertain significance
- H36L (p.His36Leu), ExAC rs751668434, TOPMed rs751668434, REVEL 0.38, MetaLR 0.62, Uncertain significance, Duchenne muscular dystrophy
- H36R (p.His36Arg), ExAC rs751668434, TOPMed rs751668434
- I37L (p.Ile37Leu), ExAC rs763415074, TOPMed rs763415074, gnomAD rs763415074, REVEL 0.74, MetaLR 0.94
- I37V (p.Ile37Val), ExAC rs763415074, TOPMed rs763415074, gnomAD rs763415074, REVEL 0.54, MetaLR 0.80
- E38D (p.Glu38Asp), gnomAD rs1458160863, REVEL 0.29, MetaLR 0.57
- N39K (p.Asn39Lys), NCI-TCGA TCGA novel, REVEL 0.62, MetaLR 0.74, Variant assessed as somatic; moderate impact.
- L40F (p.Leu40Phe), rs1001154410, ClinGen CA412674952, cosmic curated COSV10942, ClinVar RCV002028766, REVEL 0.84, MetaLR 0.97, Uncertain significance
- L40H (p.Leu40His), rs2524951805, ClinGen CA412674950, ClinVar RCV003021604, Uncertain significance, Duchenne muscular dystrophy
- L40I (p.Leu40Ile), TOPMed rs1001154410, gnomAD rs1001154410, REVEL 0.72, MetaLR 0.95, Uncertain significance
- L40V (p.Leu40Val), rs1001154410, ClinGen CA328578640, ClinVar RCV002985321, TOPMed rs1001154410, REVEL 0.81, MetaLR 0.95, Uncertain significance, Duchenne muscular dystrophy
- F41V (p.Phe41Val), rs2524951724, ClinGen CA412674946, ClinVar RCV003089283, ClinVar RCV004779426, Uncertain significance, not provided; Duchenne muscular dystrophy
- S42N (p.Ser42Asn), rs1557084218, ClinGen CA412674937, ClinVar RCV000611776, ClinVar RCV002528702, REVEL 0.19, MetaLR 0.65, Likely benign
- L44P (p.Leu44Pro), rs2524951459, ClinGen CA412674921, ClinVar RCV003146143, Uncertain significance, not provided
- Q45* (p.Gln45Ter), rs794727499, ClinGen CA275173, ClinVar RCV000177187, ClinVar RCV005089888, Pathogenic
- D46N (p.Asp46Asn), Ensembl rs1603448417, Uncertain significance, Duchenne muscular dystrophy
- D46V (p.Asp46Val), rs398123858, ClinGen CA266886, ClinVar RCV001061449, ClinVar RCV003144125, AlphaMissense 0.79, MetaLR 0.97, Uncertain significance
- G47A (p.Gly47Ala), rs398123860, ClinGen CA10606791, ClinVar RCV000271972, Ensembl rs398123860, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance
- G47E (p.Gly47Glu), Ensembl rs398123860, Uncertain significance
- G47R (p.Gly47Arg), rs1557084183, ClinGen CA412674905, NCI-TCGA Cosmic COSV5590, cosmic curated COSV55904, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance
- G47V (p.Gly47Val), NCI-TCGA Cosmic COSV5587, cosmic curated COSV55879, Variant assessed as somatic; moderate impact.
- G47W (p.Gly47Trp), rs1557084183, ClinGen CA412674903, ClinVar RCV000517163, ClinVar RCV001323501, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance
- R48G (p.Arg48Gly), Ensembl rs1569533964, REVEL 0.69, MetaLR 0.83
- R48K (p.Arg48Lys), rs1278945683, ClinGen CA412674899, ClinVar RCV002998916, TOPMed rs1278945683, REVEL 0.28, MetaLR 0.70, Likely benign, Duchenne muscular dystrophy
- R49C (p.Arg49Cys), rs147548697, ClinGen CA10380250, cosmic curated COSV55910, ClinVar RCV000214960, REVEL 0.63, MetaLR 0.76, Likely benign
- R49H (p.Arg49His), rs765584669, ClinGen CA10380249, NCI-TCGA Cosmic COSV5586, cosmic curated COSV55866, REVEL 0.71, MetaLR 0.87, Likely benign
- L50H (p.Leu50His), rs1557084149, ClinGen CA412674887, ClinVar RCV000593240, ClinVar RCV000630527, AlphaMissense 0.99, MetaLR 0.99, Uncertain significance
- L51P (p.Leu51Pro), rs886044089, ClinGen CA10606333, ClinVar RCV000345026, ClinVar RCV000685041, AlphaMissense 0.99, MetaLR 0.94, Uncertain significance
- D52Y (p.Asp52Tyr), gnomAD rs1448085412, REVEL 0.73, MetaLR 0.82
- L54R (p.Leu54Arg), rs128626231, ClinGen CA341034, ClinVar RCV000011979, UniProt VAR 005147, AlphaMissense 0.98, MetaLR 0.97, Pathogenic, in DMD
- E55* (p.Glu55Ter), rs1603448406, ClinGen CA412674861, cosmic curated COSV55854, ClinVar RCV002544241, AlphaMissense 0.66, MetaLR 0.96, Pathogenic
- E55D (p.Glu55Asp), NCI-TCGA Cosmic COSV5589, cosmic curated COSV55892, REVEL 0.84, MetaLR 0.93, Variant assessed as somatic; moderate impact.
- E55K (p.Glu55Lys), rs1603448406, ClinGen CA412674860, NCI-TCGA Cosmic COSV5585, NCI-TCGA Cosmic COSV5588, REVEL 0.88, AlphaMissense 0.66, Pathogenic
- G56V (p.Gly56Val), rs2149014905, ClinGen CA412674848, ClinVar RCV002046590, Ensembl rs2149014905, AlphaMissense 0.19, MetaLR 0.64, Uncertain significance
- L57P (p.Leu57Pro), rs886044431, ClinGen CA10606746, ClinVar RCV000359243, ClinVar RCV002470839, REVEL 0.94, AlphaMissense 0.97, Uncertain significance
- L57R (p.Leu57Arg), rs886044431, ClinGen CA412674844, ClinVar RCV000757168, ClinVar RCV006556615, AlphaMissense 0.97, MetaLR 0.97, Uncertain significance
- G59E (p.Gly59Glu), NCI-TCGA Cosmic COSV5588, cosmic curated COSV55881, REVEL 0.73, MetaLR 0.91, Variant assessed as somatic; moderate impact.
- G59R (p.Gly59Arg), Ensembl rs2080979553, REVEL 0.57, MetaLR 0.88, Uncertain significance, Cardiovascular phenotype
- Q60* (p.Gln60Ter), rs128626233, ClinGen CA341040, ClinVar RCV000011990, ClinVar RCV000517214, Pathogenic
- K61* (p.Lys61Ter), rs2524949516, ClinGen CA412674824, ClinVar RCV002470679, Likely pathogenic
- P63=, NCI-TCGA Cosmic COSV5589, NCI-TCGA Cosmic COSV5590, Variant assessed as somatic; low impact.
- P63R (p.Pro63Arg), gnomAD rs1183396783, REVEL 0.70, MetaLR 0.77
- P63S (p.Pro63Ser), rs1386946939, ClinGen CA412674798, ClinVar RCV001912610, TOPMed rs1386946939, REVEL 0.45, MetaLR 0.67, Uncertain significance, Cardiovascular phenotype
- K64N (p.Lys64Asn), Ensembl rs2080512975
- K64T (p.Lys64Thr), rs1482045034, ClinGen CA412674789, ClinVar RCV001364835, ClinVar RCV001826033, REVEL 0.74, MetaLR 0.90, Uncertain significance
- E65* (p.Glu65Ter), NCI-TCGA Cosmic COSV5591, Ensembl rs2148984839, Uncertain significance
- E65D (p.Glu65Asp), TOPMed rs1236571983, gnomAD rs1236571983, REVEL 0.55, MetaLR 0.89, Uncertain significance, Duchenne muscular dystrophy
- E65Q (p.Glu65Gln), rs2148984839, ClinGen CA412674782, ClinVar RCV002041946, Ensembl rs2148984839, AlphaMissense 0.77, MetaLR 0.91, Uncertain significance
- E65V (p.Glu65Val), Ensembl rs2148984828
- K66* (p.Lys66Ter), rs1603447072, ClinGen CA412674774, ClinVar RCV000990758, Ensembl rs1603447072, Likely pathogenic
- K66T (p.Lys66Thr), ExAC rs764523904, gnomAD rs764523904, REVEL 0.71, MetaLR 0.91
- G67* (p.Gly67Ter), Ensembl rs398123871, Uncertain significance
- G67R (p.Gly67Arg), rs398123871, ClinGen CA412674768, ClinVar RCV001952207, ClinVar RCV004526159, REVEL 0.92, MetaLR 0.91, Uncertain significance, Cardiovascular phenotype
- R70* (p.Arg70Ter), rs2080510348, ClinGen CA412674751, ClinVar RCV001781978, ClinVar RCV002246496, AlphaMissense 0.93, MetaLR 0.95, Pathogenic
- R70G (p.Arg70Gly), cosmic curated COSV10730, gnomAD rs2080510348, REVEL 0.85, AlphaMissense 0.93, Uncertain significance, Duchenne muscular dystrophy
- H72N (p.His72Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H72Y (p.His72Tyr), Ensembl rs2080509914, Uncertain significance, Duchenne muscular dystrophy
- L74P (p.Leu74Pro), rs2524853552, ClinGen CA412674722, ClinVar RCV003989371, Uncertain significance, Cardiovascular phenotype; Duchenne muscular dystrophy
- L74Q (p.Leu74Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N75K (p.Asn75Lys), ExAC rs770415559, gnomAD rs770415559, REVEL 0.75, MetaLR 0.89
- N75S (p.Asn75Ser), rs2080508805, ClinGen CA412674716, ClinVar RCV001231624, ClinVar RCV001834006, REVEL 0.61, MetaLR 0.83, Uncertain significance
- N76I (p.Asn76Ile), Ensembl rs2148984560
- V77D (p.Val77Asp), rs886042956, ClinGen CA10604921, ClinVar RCV000354234, Ensembl rs886042956, AlphaMissense 1.00, MetaLR 0.96, Uncertain significance
- K79E (p.Lys79Glu), rs2524853222, ClinGen CA412674691, ClinVar RCV002448508, REVEL 0.81, MetaLR 0.89, Uncertain significance, Cardiovascular phenotype
- A80G (p.Ala80Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A80T (p.Ala80Thr), TOPMed rs1217911765, gnomAD rs1217911765, REVEL 0.84, MetaLR 0.96
- L81Q (p.Leu81Gln), gnomAD rs1378678678, Uncertain significance, Duchenne muscular dystrophy
- R82L (p.Arg82Leu), NCI-TCGA Cosmic COSV5588, NCI-TCGA Cosmic COSV9992, cosmic curated COSV99922, Uncertain significance, Duchenne muscular dystrophy
- R82P (p.Arg82Pro), rs1228664222, ClinGen CA412674671, ClinVar RCV000698008, ClinVar RCV000727670, AlphaMissense 0.06, MetaLR 0.37, Likely benign
- R82Q (p.Arg82Gln), rs1228664222, ClinGen CA412674672, NCI-TCGA Cosmic COSV5588, cosmic curated COSV55886, REVEL 0.26, AlphaMissense 0.06, Likely benign
- R82W (p.Arg82Trp), rs772546251, ClinGen CA10380219, NCI-TCGA Cosmic COSV5589, cosmic curated COSV55899, REVEL 0.49, MetaLR 0.79, Benign
- V83F (p.Val83Phe), rs1358774744, ClinGen CA412674669, ClinVar RCV003018059, TOPMed rs1358774744, REVEL 0.56, MetaLR 0.60, Uncertain significance, Duchenne muscular dystrophy
- V83I (p.Val83Ile), rs1358774744, ClinGen CA412674667, ClinVar RCV000605014, ClinVar RCV001829725, REVEL 0.30, MetaLR 0.52, Likely benign
- Q85* (p.Gln85Ter), rs128626234, ClinGen CA341028, ClinVar RCV000011972, Ensembl rs128626234, CADD 38.00, Pathogenic
- Q85E (p.Gln85Glu), Ensembl rs128626234, Pathogenic
- Q85R (p.Gln85Arg), rs1297662991, ClinGen CA412674653, ClinVar RCV000693610, ClinVar RCV001825351, REVEL 0.59, MetaLR 0.81, Uncertain significance
- N86K (p.Asn86Lys), rs1368237586, ClinGen CA412674643, ClinVar RCV002569835, TOPMed rs1368237586, REVEL 0.26, MetaLR 0.54, Uncertain significance, Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystroph
- N87S (p.Asn87Ser), rs1452900149, ClinGen CA412674637, ClinVar RCV001908178, ClinVar RCV004041427, REVEL 0.40, MetaLR 0.66, Uncertain significance, not provided
- N88Y (p.Asn88Tyr), ExAC rs769800814, gnomAD rs769800814, REVEL 0.79, MetaLR 0.93
- V89A (p.Val89Ala), rs1557058441, ClinGen CA412674609, ClinVar RCV000999386, ClinVar RCV002249608, REVEL 0.88, MetaLR 0.93, Uncertain significance
- V89D (p.Val89Asp), rs1557058441, ClinGen CA412674610, cosmic curated COSV99918, ClinVar RCV000596213, REVEL 0.94, MetaLR 0.96, Uncertain significance
- V89F (p.Val89Phe), NCI-TCGA Cosmic COSV9992, cosmic curated COSV99927, Variant assessed as somatic; moderate impact.
- V89I (p.Val89Ile), TOPMed rs1334376403, gnomAD rs1334376403, REVEL 0.52, MetaLR 0.80
- D90N (p.Asp90Asn), Ensembl rs2078437556, REVEL 0.50, MetaLR 0.82, Uncertain significance, not specified
- L91* (p.Leu91Ter), Ensembl rs2148850681
- L91V (p.Leu91Val), Ensembl rs2078437398
- V92A (p.Val92Ala), Ensembl rs1569529172
- V92M (p.Val92Met), gnomAD rs1211544333, REVEL 0.84, MetaLR 0.95
- N93D (p.Asn93Asp), rs2148850616, ClinGen CA2499226666, ClinVar RCV001360321, Ensembl rs2148850616, REVEL 0.89, MetaLR 0.92, Uncertain significance
- I94N (p.Ile94Asn), Ensembl rs2078436389, Uncertain significance
- I94T (p.Ile94Thr), rs2078436389, ClinGen CA412674576, ClinVar RCV001247324, ClinVar RCV001830008, AlphaMissense 0.81, MetaLR 0.95, Uncertain significance
- G95* (p.Gly95Ter), rs1557058415, ClinGen CA412674570, cosmic curated COSV55878, ClinVar RCV000594366, Pathogenic
- G95V (p.Gly95Val), rs1381812538, ClinGen CA412674567, ClinVar RCV000552068, ClinVar RCV001834727, REVEL 0.95, MetaLR 0.92, Uncertain significance
- S96N (p.Ser96Asn), rs1569529162, ClinGen CA412674563, cosmic curated COSV99926, ClinVar RCV000733160, REVEL 0.59, MetaLR 0.87, Uncertain significance
- S96R (p.Ser96Arg), Ensembl rs2078435515
- S96T (p.Ser96Thr), NCI-TCGA Cosmic COSV9992, Variant assessed as somatic; moderate impact.
- T97A (p.Thr97Ala), rs1557058403, ClinGen CA412674558, ClinVar RCV000559931, Ensembl rs1557058403, AlphaMissense 0.07, MetaLR 0.48, Uncertain significance
- T97I (p.Thr97Ile), TOPMed rs2078435183
- D98* (p.Asp98Ter), rs797044756, ClinGen CA275307, ClinVar RCV000178886, Pathogenic
- D98G (p.Asp98Gly), rs772375271, ClinGen CA10380190, ClinVar RCV001923715, ClinVar RCV005635317, REVEL 0.97, MetaLR 0.97, Uncertain significance
- D98Y (p.Asp98Tyr), Ensembl rs2148850409
- I99V (p.Ile99Val), rs149428656, ClinGen CA295602, ClinVar RCV000212485, ClinVar RCV000515266, REVEL 0.83, MetaLR 0.95, Likely benign
- V100A (p.Val100Ala), TOPMed rs2078434110
- V100I (p.Val100Ile), rs779099343, ClinGen CA10380189, ClinVar RCV000219870, ClinVar RCV001828073, REVEL 0.69, AlphaMissense 0.23, Likely benign
- V100L (p.Val100Leu), rs779099343, ClinGen CA412674538, ClinVar RCV003146164, AlphaMissense 0.23, MetaLR 0.93, Uncertain significance, not provided
- D101N (p.Asp101Asn), Ensembl rs758497340
- G102R (p.Gly102Arg), TOPMed rs1263846042, gnomAD rs1263846042, REVEL 0.93, MetaLR 0.96, Uncertain significance, Cardiovascular phenotype
- N103D (p.Asn103Asp), gnomAD rs1299286244
- N103I (p.Asn103Ile), Ensembl rs2148850268
- H104L (p.His104Leu), rs2148850239, ClinGen CA412674509, ClinVar RCV001364677, Ensembl rs2148850239, AlphaMissense 0.41, MetaLR 0.76, Likely benign
- H104N (p.His104Asn), ExAC rs757270951, gnomAD rs757270951, REVEL 0.71, MetaLR 0.89
- H104Y (p.His104Tyr), rs757270951, ClinGen CA412674512, ClinVar RCV002326068, ClinVar RCV004801194, REVEL 0.83, MetaLR 0.90, Uncertain significance, Cardiovascular phenotype; not specified; Duchenne muscular dystrophy
- K105* (p.Lys105Ter), rs2148850223, ClinGen CA412674504, ClinVar RCV003346731, ClinVar RCV004812482, Pathogenic
- K105I (p.Lys105Ile), rs398123928, ClinGen CA222369, ClinVar RCV002024555, Ensembl rs398123928, AlphaMissense 0.98, MetaLR 0.95, Uncertain significance
- K105N (p.Lys105Asn), gnomAD rs1370182967
- L106V (p.Leu106Val), rs1326193346, ClinGen CA412674498, ClinVar RCV003087478, Uncertain significance, Duchenne muscular dystrophy
- T107S (p.Thr107Ser), rs2524458482, ClinGen CA412674492, ClinVar RCV003993419, REVEL 0.87, MetaLR 0.94, Uncertain significance, not provided
- L108I (p.Leu108Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L108P (p.Leu108Pro), rs1557058350, ClinGen CA412674484, ClinVar RCV000630561, Ensembl rs1557058350, AlphaMissense 0.99, MetaLR 0.98, Likely pathogenic
- G109A (p.Gly109Ala), rs1048652498, ClinGen CA328575130, ClinVar RCV001322688, ClinVar RCV001830975, REVEL 0.92, MetaLR 0.93, Likely benign
- G109D (p.Gly109Asp), TOPMed rs1048652498, gnomAD rs1048652498, Likely benign
- G109R (p.Gly109Arg), rs1060502658, ClinGen CA16616535, ClinVar RCV000464588, ClinVar RCV001274387, AlphaMissense 0.99, MetaLR 0.94, Uncertain significance
- L110F (p.Leu110Phe), rs2148850115, ClinGen CA412674473, ClinVar RCV001940301, Ensembl rs2148850115, AlphaMissense 0.78, MetaLR 0.97, Uncertain significance
- I111L (p.Ile111Leu), rs2078431806, ClinGen CA412674471, ClinVar RCV001237892, ClinVar RCV001836194, REVEL 0.65, MetaLR 0.84, Uncertain significance
- I111N (p.Ile111Asn), rs1603441549, ClinGen CA412674468, ClinVar RCV000990754, Ensembl rs1603441549, AlphaMissense 0.94, MetaLR 0.96, Uncertain significance
- W112* (p.Trp112Ter), rs398123936, ClinGen CA266997, ClinVar RCV000080574, Ensembl rs398123936, Pathogenic
- N113S (p.Asn113Ser), rs1557058336, ClinGen CA412674452, ClinVar RCV000603807, Ensembl rs1557058336, AlphaMissense 0.13, MetaLR 0.42, Likely benign
- I115V (p.Ile115Val), Ensembl rs796935163, Uncertain significance, Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystroph
- H117Q (p.His117Gln), TOPMed rs1263398922, gnomAD rs1263398922, REVEL 0.74, MetaLR 0.88
- W118* (p.Trp118Ter), rs2148849959, ClinGen CA412674416, ClinVar RCV001868836, Ensembl rs2148849959, AlphaMissense 0.96, MetaLR 0.89, Pathogenic, in a patient with Becker muscular dystrophy
- W118C (p.Trp118Cys), rs2148849959, ClinGen CA412674415, ClinVar RCV002018383, Ensembl rs2148849959, AlphaMissense 0.96, MetaLR 0.89, Pathogenic, in a patient with Becker muscular dystrophy
Public DMD analysis runs
- DMD analysis run — DMD (5,876 variants) — completed 2026-08-09