ABCC9 (O60706) variants and mutations
ABCC9 (also known as O60706) is a human protein-coding gene encoding an ATP-binding cassette sub-family C member 9 protein. A regulatory subunit of ATP-sensitive potassium (KATP) channels, partnering with KCNJ11 or KCNJ8 to control channel activation. It is a multi-pass membrane protein with important roles in cardiac and smooth-muscle excitability, and altered ABCC9 function is associated with cardiomyopathy, atrial fibrillation, and neurodevelopmental syndromes. This analysis covers 2,246 ABCC9 variants and mutations. Of these, 49% have computational variant effect predictions. Disease context includes Hypertrichotic osteochondrodysplasia, Cantu type, hypertrichotic osteochondrodysplasia Cantu type, and dilated cardiomyopathy 1O. Example ABCC9 variants include M1?, M1I, and S2G.
Variant analysis overview
- Gene: ABCC9
- Protein: O60706
- UniProt accession: O60706
- Organism: Homo sapiens
- Variants analyzed: 2246
- Variant scope: all variants
- Completed: 2026-07-12
Variant and mutation evidence
- Variant composition: 2,020 unspecified-consequence records; 1 stop lost; 119 missense variants; 71 synonymous variants; 15 frameshift variants; 5 stop-gained variants; 3 in-frame insertions; 4 in-frame deletions; 4 splice-region variants; 1 stop retained variant; 2 substitution
- Prediction scores: 1,095 variants have prediction scores (49% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hypertrichotic osteochondrodysplasia, Cantu type, hypertrichotic osteochondrodysplasia Cantu type, dilated cardiomyopathy 1O, intellectual disability and myopathy syndrome, atrial fibrillation, familial, 12, familial isolated dilated cardiomyopathy, hypertensive disorder, Abnormality of the skeletal system, Abnormality of the cardiovascular system, autosomal dominant dilated cardiomyopathy, neurodegenerative disease, dilated cardiomyopathy.
Protein structure and variant hotspots
- Protein features: 15 transmembrane segments; 4 domains; 2 binding sites; 5 post-translational modification sites.
- Structural context: 1,683 variants have structural context.
- PTM context: 10 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, ClinGen, PharmGKB, MaveDB, LitVar.
Notable ABCC9 variants
Examples include M1?, M1I, S2G, S2N, L3V, G7D, G7S, G7V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5397, cosmic curated COSV53972, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs1949501476, ClinGen CA384134084, ClinVar RCV003510638, Uncertain significance, Dilated cardiomyopathy 1O
- S2G (p.Ser2Gly), rs1485712335, ClinGen CA384134076, ClinVar RCV000640328, ClinVar RCV002334111, REVEL 0.25, CADD 21.30, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1O
- S2N (p.Ser2Asn), rs1359649036, ClinGen CA384134071, ClinVar RCV000706525, ClinVar RCV002485773, REVEL 0.26, CADD 17.90, Uncertain significance, Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia Cantu type; Atri
- L3V (p.Leu3Val), rs976596252, ClinGen CA233626974, ClinVar RCV001236102, ClinVar RCV002480771, REVEL 0.36, CADD 20.80, Uncertain significance, Dilated cardiomyopathy 1O; Intellectual disability and myopathy syndrome; Hypert
- G7D (p.Gly7Asp), gnomAD rs1475114116, REVEL 0.92, CADD 25.90
- G7S (p.Gly7Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G7V (p.Gly7Val), gnomAD rs1475114116
- N8* (p.Asn8Ter), rs1264575683, ClinGen CA686453304, ClinVar RCV001884057, ClinVar RCV002425181, CADD 23.50, Pathogenic
- N8D (p.Asn8Asp), cosmic curated COSV99684
- N8S (p.Asn8Ser), rs1591761089, ClinGen CA384133974, ClinVar RCV000805944, Ensembl rs1591761089, Uncertain significance, Dilated cardiomyopathy 1O
- N9D (p.Asn9Asp), Ensembl rs895752614
- N9H (p.Asn9His), rs895752614, ClinGen CA384133965, ClinVar RCV002644462, REVEL 0.33, CADD 22.50, Uncertain significance, Dilated cardiomyopathy 1O
- N9S (p.Asn9Ser), ExAC rs776881654, TOPMed rs776881654, gnomAD rs776881654, REVEL 0.32, CADD 19.90
- I10S (p.Ile10Ser), Ensembl rs1949499045, REVEL 0.26, CADD 13.50
- S12L (p.Ser12Leu), rs766371743, ClinGen CA233626956, ClinVar RCV001921731, TOPMed rs766371743, REVEL 0.57, CADD 24.10, Uncertain significance, Dilated cardiomyopathy 1O
- Y13H (p.Tyr13His), ExAC rs771346551, TOPMed rs771346551, gnomAD rs771346551, REVEL 0.69, CADD 25.10
- N16K (p.Asn16Lys), rs199631710, ClinGen CA384133874, cosmic curated COSV53973, ClinVar RCV002030762, Uncertain significance, Dilated cardiomyopathy 1O
- N16S (p.Asn16Ser), rs727502877, ClinGen CA175175, ClinVar RCV000150126, ClinVar RCV000458476, REVEL 0.15, CADD 1.81, Conflicting interpretations, Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1O
- D17N (p.Asp17Asn), rs772070154, ClinGen CA6481961, NCI-TCGA Cosmic COSV9968, cosmic curated COSV99684, REVEL 0.17, CADD 0.90, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1O
- G18R (p.Gly18Arg), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53964, Variant assessed as somatic; moderate impact.
- G18S (p.Gly18Ser), rs1322335430, ClinGen CA384133859, ClinVar RCV000660569, gnomAD rs1322335430, REVEL 0.41, CADD 18.70, Uncertain significance, Dilated cardiomyopathy 1O
- V19A (p.Val19Ala), cosmic curated COSV53964, Ensembl rs1161689926
- V19I (p.Val19Ile), rs2138078291, ClinGen CA384133850, ClinVar RCV001960249, Ensembl rs2138078291, REVEL 0.47, CADD 16.40, Uncertain significance, Dilated cardiomyopathy 1O
- N22H (p.Asn22His), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53961, Variant assessed as somatic; moderate impact.
- S23F (p.Ser23Phe), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53968, Variant assessed as somatic; moderate impact.
- S23T (p.Ser23Thr), rs1949497438, ClinGen CA384133786, ClinVar RCV001171152, TOPMed rs1949497438, REVEL 0.31, CADD 5.87, Uncertain significance, Cardiomyopathy
- C24* (p.Cys24Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- C24S (p.Cys24Ser), rs2138078170, ClinGen CA384133763, ClinVar RCV002043625, Ensembl rs2138078170, Uncertain significance, Dilated cardiomyopathy 1O
- F25C (p.Phe25Cys), cosmic curated COSV10730
- V26A (p.Val26Ala), ExAC rs748812668, gnomAD rs748812668, REVEL 0.81, CADD 25.60
- V26M (p.Val26Met), ExAC rs754476885, gnomAD rs754476885, REVEL 0.70, CADD 24.90
- D27N (p.Asp27Asn), Ensembl rs1949496867
- A28T (p.Ala28Thr), Ensembl rs1591760909
- A28V (p.Ala28Val), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53965, Variant assessed as somatic; moderate impact.
- N30D (p.Asn30Asp), rs779664751, ClinGen CA6481956, ClinVar RCV003078248, ExAC rs779664751, Uncertain significance, Dilated cardiomyopathy 1O
- L31V (p.Leu31Val), rs1349835931, ClinGen CA384133614, ClinVar RCV003511141, TOPMed rs1349835931, Uncertain significance, Dilated cardiomyopathy 1O
- P33T (p.Pro33Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H34Q (p.His34Gln), ExAC rs778139798, TOPMed rs778139798, gnomAD rs778139798
- H34Y (p.His34Tyr), Ensembl rs1565502008, REVEL 0.73, CADD 25.80
- V35A (p.Val35Ala), cosmic curated COSV10437
- F36L (p.Phe36Leu), rs1460302850, ClinGen CA384133513, ClinVar RCV002224476, ClinVar RCV005095762, REVEL 0.83, CADD 24.00, Uncertain significance, Dilated cardiomyopathy 1O; not provided
- F36V (p.Phe36Val), NCI-TCGA Cosmic COSV9968, cosmic curated COSV99684, Variant assessed as somatic; moderate impact.
- L37M (p.Leu37Met), cosmic curated COSV53973
- L37V (p.Leu37Val), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- F39L (p.Phe39Leu), NCI-TCGA TCGA novel, cosmic curated COSV10808, Variant assessed as somatic; moderate impact.
- I40S (p.Ile40Ser), gnomAD rs1262119008, REVEL 0.78, CADD 26.90
- F42C (p.Phe42Cys), gnomAD rs1200685317, REVEL 0.77, CADD 28.50, Uncertain significance, Dilated cardiomyopathy 1O; not provided
- F42S (p.Phe42Ser), gnomAD rs1200685317
- P43S (p.Pro43Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- I44V (p.Ile44Val), rs750233555, ClinGen CA233626868, ClinVar RCV001314801, TOPMed rs750233555, REVEL 0.66, CADD 21.80, Uncertain significance, Dilated cardiomyopathy 1O
- L45F (p.Leu45Phe), cosmic curated COSV53973
- L45S (p.Leu45Ser), NCI-TCGA Cosmic COSV5398, cosmic curated COSV53983, REVEL 0.93, CADD 27.20, Variant assessed as somatic; moderate impact.
- F46L (p.Phe46Leu), rs1555125391, ClinGen CA384133317, ClinVar RCV000640319, Ensembl rs1555125391, Uncertain significance, Dilated cardiomyopathy 1O
- I47F (p.Ile47Phe), cosmic curated COSV53981
- I47N (p.Ile47Asn), cosmic curated COSV53981
- G48W (p.Gly48Trp), cosmic curated COSV99685
- W49* (p.Trp49Ter), rs886049175, ClinGen CA384131990, ClinVar RCV003168126, ClinVar RCV005101005, CADD 37.00, Pathogenic
- W49C (p.Trp49Cys), cosmic curated COSV10879, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W49L (p.Trp49Leu), rs886049175, ClinGen CA384131988, ClinVar RCV003380032, ClinVar RCV005061355, REVEL 0.84, CADD 22.60, Uncertain significance, Dilated cardiomyopathy 1O; Cardiovascular phenotype
- W49R (p.Trp49Arg), gnomAD rs1949382458, REVEL 0.88, CADD 27.20
- W49S (p.Trp49Ser), rs886049175, ClinGen CA10640705, ClinVar RCV000281417, ClinVar RCV000320964, REVEL 0.88, CADD 26.40, Uncertain significance, Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia Cantu type
- S51N (p.Ser51Asn), rs1342458654, gnomAD rs1342458654, REVEL 0.65, CADD 24.20, Variant assessed as somatic; moderate impact.
- K55E (p.Lys55Glu), NCI-TCGA Cosmic COSV5397, cosmic curated COSV53973, Variant assessed as somatic; moderate impact.
- V56I (p.Val56Ile), gnomAD rs749597050, REVEL 0.57, CADD 24.70
- V56L (p.Val56Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q57* (p.Gln57Ter), rs727502876, ClinGen CA175165, ClinVar RCV000150123, ClinVar RCV003509497, CADD 37.00, Pathogenic
- I58L (p.Ile58Leu), TOPMed rs1232644596, gnomAD rs1232644596, REVEL 0.74, CADD 22.90, Uncertain significance, Dilated cardiomyopathy 1O
- H59R (p.His59Arg), gnomAD rs1423323542, REVEL 0.84, CADD 23.50
- H60N (p.His60Asn), cosmic curated COSV99684
- H60Q (p.His60Gln), NCI-TCGA Cosmic COSV9968, cosmic curated COSV99685, Variant assessed as somatic; moderate impact., in HTOCD
- H60Y (p.His60Tyr), rs387907230, ClinGen CA260095, ClinVar RCV000029191, UniProt VAR 068485, Pathogenic, Hypertrichotic osteochondrodysplasia Cantu type
- W63C (p.Trp63Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F66L (p.Phe66Leu), rs1384960260, ClinGen CA384131693, ClinVar RCV002633358, TOPMed rs1384960260, REVEL 0.78, CADD 21.20, Uncertain significance, Dilated cardiomyopathy 1O
- F66S (p.Phe66Ser), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53965, Variant assessed as somatic; moderate impact.
- P67L (p.Pro67Leu), rs766600615, ClinGen CA6481928, ClinVar RCV001221663, ClinVar RCV001751425, REVEL 0.90, CADD 28.30, Uncertain significance, Hypertrichotic osteochondrodysplasia Cantu type; Cardiovascular phenotype; Dilat
- P67Q (p.Pro67Gln), ExAC rs766600615, TOPMed rs766600615, gnomAD rs766600615, REVEL 0.93, CADD 29.60, Uncertain significance
- G68E (p.Gly68Glu), ExAC rs760934600, REVEL 0.95, CADD 25.70
- N70T (p.Asn70Thr), cosmic curated COSV53976
- R72I (p.Arg72Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R72K (p.Arg72Lys), rs369409311, ClinGen CA6481926, ClinVar RCV000466921, ClinVar RCV002429531, REVEL 0.83, CADD 23.90, Uncertain significance, Dilated cardiomyopathy 1O; Cardiovascular phenotype
- W73* (p.Trp73Ter), cosmic curated COSV53986, TOPMed rs1949379806, Uncertain significance
- W73C (p.Trp73Cys), rs1949379806, ClinGen CA384131581, ClinVar RCV001948243, TOPMed rs1949379806, Uncertain significance, Dilated cardiomyopathy 1O
- L75V (p.Leu75Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T76R (p.Thr76Arg), Ensembl rs745330137, REVEL 0.84, CADD 26.40
- A78T (p.Ala78Thr), rs1483062806, ClinGen CA384131499, NCI-TCGA Cosmic COSV5397, cosmic curated COSV53971, REVEL 0.30, CADD 20.10, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1O
- A78V (p.Ala78Val), rs1253372454, ClinGen CA384131493, ClinVar RCV001553604, ClinVar RCV002570700, REVEL 0.34, CADD 18.00, Uncertain significance, Dilated cardiomyopathy 1O; not specified
- L79F (p.Leu79Phe), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53967, Variant assessed as somatic; moderate impact.
- V82M (p.Val82Met), Ensembl rs1565499118
- H83R (p.His83Arg), rs1949379077, ClinGen CA384131408, ClinVar RCV003511442, TOPMed rs1949379077, REVEL 0.83, CADD 23.00, Uncertain significance, Dilated cardiomyopathy 1O
- C85Y (p.Cys85Tyr), cosmic curated COSV99688, REVEL 0.88, CADD 25.80
- E86K (p.Glu86Lys), ExAC rs774026262, gnomAD rs774026262, REVEL 0.79, CADD 24.70, Uncertain significance
- E86Q (p.Glu86Gln), rs774026262, ClinGen CA6481923, ClinVar RCV000617768, ClinVar RCV001346344, REVEL 0.75, CADD 25.30, Uncertain significance, Dilated cardiomyopathy 1O; Cardiovascular phenotype
- I87N (p.Ile87Asn), rs2541877986, ClinGen CA2580085287, ClinVar RCV002995528, Pathogenic
- I87T (p.Ile87Thr), TOPMed rs1949378749
- A88T (p.Ala88Thr), cosmic curated COSV53967
- E89G (p.Glu89Gly), 1000Genomes rs199508243, REVEL 0.92, CADD 31.00
- G90D (p.Gly90Asp), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53969, Variant assessed as somatic; moderate impact.
- G90F (p.Gly90Phe), rs2138060575, ClinGen CA2573148492, ClinVar RCV001878202, Ensembl rs2138060575, Uncertain significance, Dilated cardiomyopathy 1O
- G90S (p.Gly90Ser), NCI-TCGA Cosmic COSV5398, cosmic curated COSV53980, Variant assessed as somatic; moderate impact.
- I91F (p.Ile91Phe), cosmic curated COSV10503
- I91V (p.Ile91Val), TOPMed rs1290561675, gnomAD rs1290561675, REVEL 0.42, CADD 21.60
- D94H (p.Asp94His), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53968, Variant assessed as somatic; moderate impact.
- S95L (p.Ser95Leu), rs376432144, ClinGen CA6481922, ClinVar RCV002790720, ESP rs376432144, REVEL 0.27, CADD 22.50, Uncertain significance, Dilated cardiomyopathy 1O
- R96Q (p.Arg96Gln), rs202103893, ClinGen CA302353, NCI-TCGA Cosmic COSV5397, cosmic curated COSV53973, REVEL 0.18, CADD 11.90, Conflicting interpretations, Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1O
- R96W (p.Arg96Trp), rs373792254, ClinGen CA6481905, cosmic curated COSV53978, ClinVar RCV003072989, REVEL 0.28, CADD 15.40, Uncertain significance, Dilated cardiomyopathy 1O
- R97G (p.Arg97Gly), rs727502875, ClinGen CA384129753, ClinVar RCV003014984, Uncertain significance, Dilated cardiomyopathy 1O
- R97L (p.Arg97Leu), cosmic curated COSV53976, REVEL 0.39, CADD 12.30
- R97Q (p.Arg97Gln), rs778951072, ClinGen CA233620238, cosmic curated COSV53976, ClinVar RCV002720324, REVEL 0.31, CADD 15.00, Uncertain significance, Dilated cardiomyopathy 1O
- R97W (p.Arg97Trp), rs727502875, ClinGen CA175160, cosmic curated COSV53965, ClinVar RCV000150122, REVEL 0.45, CADD 16.50, Uncertain significance, not specified; not provided; Dilated cardiomyopathy 1O
- E98D (p.Glu98Asp), gnomAD rs1466134448, Likely benign
- E98G (p.Glu98Gly), rs1592251379, ClinGen CA384129732, ClinVar RCV000806131, ClinVar RCV004028235, Uncertain significance, Dilated cardiomyopathy 1O; Cardiovascular phenotype
- S99P (p.Ser99Pro), gnomAD rs1270249014, Uncertain significance
- S99T (p.Ser99Thr), rs1270249014, ClinGen CA384129715, ClinVar RCV001917845, ClinVar RCV002490189, REVEL 0.32, CADD 15.70, Uncertain significance, Dilated cardiomyopathy 1O; Intellectual disability and myopathy syndrome; Hypert
- R100K (p.Arg100Lys), cosmic curated COSV53977
- H101P (p.His101Pro), Ensembl rs1592251339
- H101Q (p.His101Gln), gnomAD rs1202016561
- L102P (p.Leu102Pro), rs374659816, ClinGen CA6481903, ClinVar RCV000490221, ClinVar RCV000767047, REVEL 0.77, CADD 22.70, Conflicting interpretations, Cardiovascular phenotype; Dilated cardiomyopathy 1O; not specified
- H103P (p.His103Pro), Ensembl rs1592251293
- H103Y (p.His103Tyr), rs2138000225, ClinGen CA384129611, ClinVar RCV002013305, NCI-TCGA TCGA novel, Uncertain significance, Dilated cardiomyopathy 1O
- L104F (p.Leu104Phe), gnomAD rs1221054217, REVEL 0.72, CADD 24.60
- L104I (p.Leu104Ile), NCI-TCGA TCGA novel, REVEL 0.75, CADD 24.20, Variant assessed as somatic; moderate impact.
- P107T (p.Pro107Thr), TOPMed rs1189321586, REVEL 0.81, CADD 23.00
- A108G (p.Ala108Gly), rs1565491519, ClinGen CA384129506, ClinVar RCV000769386, Ensembl rs1565491519, Uncertain significance, Cardiomyopathy
- V109A (p.Val109Ala), cosmic curated COSV53988
- V109M (p.Val109Met), rs374849789, ClinGen CA6481901, cosmic curated COSV99683, ClinVar RCV001304983, REVEL 0.40, CADD 18.70, Uncertain significance, not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1O
- M110I (p.Met110Ile), cosmic curated COSV10454, Ensembl rs267603425
- M110K (p.Met110Lys), ExAC rs774731983, gnomAD rs774731983, REVEL 0.89, CADD 23.10
- V113A (p.Val113Ala), gnomAD rs1359197656, REVEL 0.54, CADD 22.50
- V113I (p.Val113Ile), rs200723629, ClinGen CA6481898, cosmic curated COSV53963, ClinVar RCV000622569, REVEL 0.28, CADD 15.70, Uncertain significance, Primary familial dilated cardiomyopathy; Cardiovascular phenotype; Dilated cardi
- A114S (p.Ala114Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A114V (p.Ala114Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T115A (p.Thr115Ala), cosmic curated COSV99684, ExAC rs780689866, gnomAD rs780689866, REVEL 0.35, CADD 17.90
- T115S (p.Thr115Ser), NCI-TCGA Cosmic COSV9968, cosmic curated COSV99684, Variant assessed as somatic; moderate impact.
- T116K (p.Thr116Lys), rs1949029798, ClinGen CA384129407, ClinVar RCV001987067, TOPMed rs1949029798, Uncertain significance, Dilated cardiomyopathy 1O
- T117A (p.Thr117Ala), rs1407766562, gnomAD rs1407766562, REVEL 0.45, CADD 20.90, Uncertain significance, Cardiovascular phenotype
- S118* (p.Ser118Ter), cosmic curated COSV53961
- S118L (p.Ser118Leu), rs2541827698, NCI-TCGA Cosmic COSV5396, NCI-TCGA Cosmic COSV9968, cosmic curated COSV99686, REVEL 0.74, CADD 24.80, Uncertain significance, Dilated cardiomyopathy 1O
- S118P (p.Ser118Pro), rs2541827710, ClinGen CA384129392, ClinVar RCV002459402, Uncertain significance, Cardiovascular phenotype
- I119T (p.Ile119Thr), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53965, Variant assessed as somatic; moderate impact.
- I119V (p.Ile119Val), rs745873108, ClinGen CA6481895, ClinVar RCV001223572, ClinVar RCV004032482, REVEL 0.27, CADD 16.60, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1O
- Y121C (p.Tyr121Cys), cosmic curated COSV53962
- Y121F (p.Tyr121Phe), gnomAD rs1451028667, REVEL 0.75, CADD 26.10
- Y122C (p.Tyr122Cys), cosmic curated COSV10503
- Y122D (p.Tyr122Asp), rs2137999579, ClinGen CA384129349, ClinVar RCV002042921, Ensembl rs2137999579, Uncertain significance, Dilated cardiomyopathy 1O
- H123D (p.His123Asp), cosmic curated COSV10503
- H123Y (p.His123Tyr), rs2541827555, ClinGen CA384129316, ClinVar RCV002346689, Uncertain significance, Cardiovascular phenotype
- N124D (p.Asn124Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N124S (p.Asn124Ser), ExAC rs781160274, TOPMed rs781160274, gnomAD rs781160274, REVEL 0.68, CADD 24.60
- E126G (p.Glu126Gly), rs1060503054, ClinGen CA16614081, ClinVar RCV000469489, Ensembl rs1060503054, Uncertain significance, Dilated cardiomyopathy 1O
- E126K (p.Glu126Lys), rs1212315529, NCI-TCGA Cosmic COSV5396, cosmic curated COSV53966, TOPMed rs1212315529, REVEL 0.90, CADD 28.90, Variant assessed as somatic; moderate impact.
- T127I (p.Thr127Ile), TOPMed rs1949028319, REVEL 0.81, CADD 28.50, Uncertain significance, Dilated cardiomyopathy 1O
- S128* (p.Ser128Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S128P (p.Ser128Pro), rs1949028117, ClinGen CA384129238, ClinVar RCV002364028, ClinVar RCV003094386, REVEL 0.75, CADD 23.10, Uncertain significance, Dilated cardiomyopathy 1O; Cardiovascular phenotype
- F130S (p.Phe130Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F130V (p.Phe130Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F130Y (p.Phe130Tyr), gnomAD rs1305902300, REVEL 0.77, CADD 25.00
- P131H (p.Pro131His), NCI-TCGA Cosmic COSV5397, cosmic curated COSV53977, Variant assessed as somatic; moderate impact.
- P131L (p.Pro131Leu), cosmic curated COSV10453
- P131S (p.Pro131Ser), rs751708268, NCI-TCGA Cosmic COSV5398, cosmic curated COSV53989, ExAC rs751708268, REVEL 0.86, CADD 28.20, Variant assessed as somatic; moderate impact.
- K132R (p.Lys132Arg), rs727505161, ClinGen CA185228, ClinVar RCV000156632, ClinVar RCV001850166, REVEL 0.75, CADD 24.40, Uncertain significance, Cardiovascular phenotype; Hypertrichotic osteochondrodysplasia Cantu type; Dilat
- L133S (p.Leu133Ser), cosmic curated COSV53981
- L134H (p.Leu134His), rs764416164, NCI-TCGA Cosmic COSV5396, cosmic curated COSV53962, Variant assessed as somatic; moderate impact.
- L134R (p.Leu134Arg), cosmic curated COSV53964
- A136S (p.Ala136Ser), rs1395854883, ClinGen CA384129084, ClinVar RCV001764956, ClinVar RCV004988722, REVEL 0.51, CADD 25.70, Uncertain significance, not provided; Cardiovascular phenotype
- L137Q (p.Leu137Gln), rs2541749034, ClinGen CA384125942, ClinVar RCV002281512, Uncertain significance, not provided
- F138L (p.Phe138Leu), gnomAD rs1391366926, REVEL 0.47, CADD 18.90
- Y140F (p.Tyr140Phe), rs2541748928, ClinGen CA384125904, ClinVar RCV003619174, Uncertain significance, Dilated cardiomyopathy 1O
- W141* (p.Trp141Ter), TOPMed rs1170853573, gnomAD rs1170853573, CADD 38.00
- W141C (p.Trp141Cys), TOPMed rs1170853573, gnomAD rs1170853573, REVEL 0.88, CADD 28.30
- W141S (p.Trp141Ser), rs2541748878, ClinGen CA384125894, ClinVar RCV003621457, Uncertain significance, Dilated cardiomyopathy 1O
- V142L (p.Val142Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M143I (p.Met143Ile), rs759985677, ExAC rs759985677, gnomAD rs759985677, REVEL 0.35, CADD 21.00, Variant assessed as somatic; moderate impact.
- A144T (p.Ala144Thr), cosmic curated COSV10437
- I146M (p.Ile146Met), rs1948627344, ClinGen CA384125819, ClinVar RCV001054050, TOPMed rs1948627344, Uncertain significance, Dilated cardiomyopathy 1O
- I146N (p.Ile146Asn), rs149325742, ClinGen CA6481859, ClinVar RCV001051007, ClinVar RCV002223976, REVEL 0.81, CADD 24.00, Uncertain significance, not provided; Dilated cardiomyopathy 1O; Cardiovascular phenotype
- T147I (p.Thr147Ile), NCI-TCGA Cosmic COSV5396, cosmic curated COSV53968, Variant assessed as somatic; moderate impact.
- I150M (p.Ile150Met), cosmic curated COSV53962
- I150V (p.Ile150Val), rs1555117063, ClinGen CA384125776, ClinVar RCV000656179, Ensembl rs1555117063, REVEL 0.58, CADD 19.20, Uncertain significance, Wolff-Parkinson-White pattern
- L152V (p.Leu152Val), rs1415365495, ClinGen CA384125744, ClinVar RCV002467473, Uncertain significance, Dilated cardiomyopathy 1O
Public ABCC9 analysis runs
- ABCC9 analysis run — ABCC9 (2,246 variants) — completed 2026-07-12