GATA3 (P23771) variants and mutations
GATA3 (also known as P23771) is a human protein-coding gene encoding a trans-acting T-cell-specific transcription factor GATA-3 protein. It regulates T-helper-2 differentiation and development of the parathyroids, kidneys, inner ear, and several epithelial tissues. Haploinsufficiency causes HDR syndrome, characterized by hypoparathyroidism, sensorineural deafness, and renal abnormalities. This analysis covers 1,825 GATA3 variants and mutations. Of these, 58% have computational variant effect predictions. Disease context includes hypoparathyroidism-deafness-renal disease syndrome, Hypoparathyroidism - deafness - renal disease, and breast adenocarcinoma. Example GATA3 variants include M1?, E2D, and E2*.
Variant analysis overview
- Gene: GATA3
- Protein: P23771
- UniProt accession: P23771
- Organism: Homo sapiens
- Variants analyzed: 1825
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,515 unspecified-consequence records; 6 stop-gained variants; 154 missense variants; 129 synonymous variants; 7 in-frame deletions; 8 frameshift variants; 2 splice-region variants; 3 in-frame insertions; 1 substitution
- Prediction scores: 1,052 variants have prediction scores (58% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypoparathyroidism-deafness-renal disease syndrome, Hypoparathyroidism - deafness - renal disease, breast adenocarcinoma, asthma, B-cell acute lymphoblastic leukemia, neurodegenerative disease, rheumatoid arthritis, nasal cavity polyp, Hodgkins lymphoma, hereditary disease, breast carcinoma, congenital anomaly of kidney and urinary tract.
Protein structure and variant hotspots
- Protein features: 2 post-translational modification sites.
- PTM context: 8 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable GATA3 variants
Examples include M1?, E2D, E2*, E2K, E2G, E2V, E2E, V3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, cosmic curated COSV10591, Variant assessed as somatic; high impact.
- E2D (p.Glu2Asp), NCI-TCGA TCGA novel, REVEL 0.57, MetaLR 0.88, Variant assessed as somatic; moderate impact.
- E2* (p.Glu2Ter), gnomAD 10-8055659-G-T, CADD 42.00
- E2K (p.Glu2Lys), gnomAD 10-8055659-G-A, REVEL 0.83, MetaLR 0.94
- E2G (p.Glu2Gly), gnomAD 10-8055660-A-G, REVEL 0.86, MetaLR 0.94
- E2V (p.Glu2Val), gnomAD 10-8055660-A-T, REVEL 0.86, MetaLR 0.89
- E2E (p.Glu2Glu), gnomAD 10-8055661-G-A, CADD 14.70
- V3A (p.Val3Ala), NCI-TCGA TCGA novel, REVEL 0.67, MetaLR 0.90, Uncertain significance, not provided
- V3E (p.Val3Glu), Ensembl rs2131482096, MetaLR 0.94, MetaSVM 1.06
- V3L (p.Val3Leu), gnomAD 10-8055662-G-T, REVEL 0.61, MetaLR 0.94
- V3M (p.Val3Met), gnomAD 10-8055662-G-A, REVEL 0.62, MetaLR 0.94
- V3V (p.Val3Val), gnomAD 10-8055664-G-T, CADD 14.40
- T4A (p.Thr4Ala), rs1274932119, ClinGen CA375964915, ClinVar RCV003218927, gnomAD rs1274932119, REVEL 0.26, MetaLR 0.57, Uncertain significance, not provided
- T4M (p.Thr4Met), cosmic curated COSV10649, Ensembl rs2131482118, REVEL 0.42, MetaLR 0.79
- T4R (p.Thr4Arg), Ensembl rs2131482118, REVEL 0.45, MetaLR 0.77
- T4S (p.Thr4Ser), gnomAD 10-8055665-A-T, REVEL 0.27, MetaLR 0.52
- T4K (p.Thr4Lys), gnomAD 10-8055666-C-A, REVEL 0.41, MetaLR 0.77
- T4T (p.Thr4Thr), gnomAD 10-8055667-G-T, CADD 11.30
- A5G (p.Ala5Gly), Ensembl rs2131482130
- A5V (p.Ala5Val), Ensembl rs2131482130, REVEL 0.46, MetaLR 0.85
- A5T (p.Ala5Thr), gnomAD 10-8055668-G-A, REVEL 0.31, MetaLR 0.77
- A5E (p.Ala5Glu), gnomAD 10-8055669-C-A, REVEL 0.52, MetaLR 0.89
- A5A (p.Ala5Ala), gnomAD 10-8055670-G-T, CADD 13.20
- D6E (p.Asp6Glu), 1000Genomes rs536685812, TOPMed rs536685812, gnomAD rs536685812, REVEL 0.28, MetaLR 0.64, Likely benign
- D6G (p.Asp6Gly), cosmic curated COSV10065, TOPMed rs1260955718, gnomAD rs1260955718, REVEL 0.63, MetaLR 0.91
- D6H (p.Asp6His), cosmic curated COSV60515
- D6N (p.Asp6Asn), gnomAD rs1214741874, REVEL 0.55, MetaLR 0.92
- D6V (p.Asp6Val), TOPMed rs1260955718, gnomAD rs1260955718
- D6Y (p.Asp6Tyr), gnomAD 10-8055671-G-T, REVEL 0.82, MetaLR 0.92
- D6D (p.Asp6Asp), rs536685812, gnomAD 10-8055673-C-T, CADD 14.00
- Q7* (p.Gln7Ter), gnomAD 10-8055674-C-T, CADD 38.00
- Q7K (p.Gln7Lys), gnomAD 10-8055674-C-A, REVEL 0.74, MetaLR 0.94
- Q7H (p.Gln7His), gnomAD 10-8055676-G-T, REVEL 0.68, MetaLR 0.93
- Q7Q (p.Gln7Gln), rs1185323304, gnomAD 10-8055676-G-A, CADD 13.30
- P8S (p.Pro8Ser), gnomAD 10-8055677-C-T, REVEL 0.43, MetaLR 0.84
- P8T (p.Pro8Thr), gnomAD 10-8055677-C-A, REVEL 0.62, MetaLR 0.91
- P8Q (p.Pro8Gln), gnomAD 10-8055678-C-A, REVEL 0.65, MetaLR 0.93
- P8L (p.Pro8Leu), gnomAD 10-8055678-C-T, REVEL 0.68, MetaLR 0.92
- P8P (p.Pro8Pro), rs1256249841, gnomAD 10-8055679-G-A, CADD 15.50
- R9C (p.Arg9Cys), cosmic curated COSV60517, REVEL 0.90, MetaLR 0.97
- R9H (p.Arg9His), cosmic curated COSV60516, ExAC rs762722802, TOPMed rs762722802, gnomAD rs762722802, REVEL 0.83, MetaLR 0.96
- R9L (p.Arg9Leu), ExAC rs762722802, TOPMed rs762722802, gnomAD rs762722802, REVEL 0.91, MetaLR 0.95
- R9S (p.Arg9Ser), gnomAD 10-8055680-C-A, REVEL 0.84, MetaLR 0.96
- R9R (p.Arg9Arg), gnomAD 10-8055682-C-T, CADD 15.80
- W10* (p.Trp10Ter), cosmic curated COSV60515, CADD 42.00
- W10G (p.Trp10Gly), rs2131482197, ClinGen CA375964954, ClinVar RCV001571398, Ensembl rs2131482197, Uncertain significance, not provided
- W10L (p.Trp10Leu), gnomAD 10-8055684-G-T, REVEL 0.83, MetaLR 0.93
- W10C (p.Trp10Cys), gnomAD 10-8055685-G-T, REVEL 0.92, MetaLR 0.97
- V11E (p.Val11Glu), Ensembl rs1564397170, REVEL 0.75, MetaLR 0.84
- V11V (p.Val11Val), rs763934992, gnomAD 10-8055688-G-C, CADD 13.50
- S12G (p.Ser12Gly), Ensembl rs2131482217, REVEL 0.43, MetaLR 0.85
- S12N (p.Ser12Asn), gnomAD 10-8055690-G-A, REVEL 0.42, MetaLR 0.88
- S12S (p.Ser12Ser), rs2131482223, gnomAD 10-8055691-C-T, CADD 16.10
- S12R (p.Ser12Arg), gnomAD 10-8055691-C-A, REVEL 0.65, MetaLR 0.86
- H13L (p.His13Leu), gnomAD rs1399335578
- H13N (p.His13Asn), ExAC rs751464240, gnomAD rs751464240, REVEL 0.66, MetaLR 0.88
- H13R (p.His13Arg), cosmic curated COSV60517, gnomAD rs1399335578, REVEL 0.74, MetaLR 0.85
- H13Y (p.His13Tyr), ExAC rs751464240, gnomAD rs751464240, MetaLR 0.89, MetaSVM 0.91
- H13H (p.His13His), rs1832619670, gnomAD 10-8055694-C-T, CADD 13.40
- H14P (p.His14Pro), Ensembl rs945635907, REVEL 0.74, MetaLR 0.87
- H14Y (p.His14Tyr), Ensembl rs2131482257, MetaLR 0.89, MetaSVM 0.91
- H15L (p.His15Leu), gnomAD rs978374011, REVEL 0.88, MetaLR 0.91
- H15P (p.His15Pro), gnomAD rs978374011, REVEL 0.82, MetaLR 0.94
- H15Q (p.His15Gln), rs757149716, ExAC rs757149716, TOPMed rs757149716, gnomAD rs757149716, REVEL 0.65, MetaLR 0.94, Uncertain significance, not provided; Inborn genetic diseases
- H15del (p.His15del), rs1437230699, gnomAD 10-8055690-GCCA-G, CADD 22.20
- H15N (p.His15Asn), gnomAD 10-8055698-C-A, REVEL 0.66, MetaLR 0.93
- H15Y (p.His15Tyr), gnomAD 10-8055698-C-T, REVEL 0.78, MetaLR 0.94
- H15R (p.His15Arg), gnomAD 10-8055699-A-G, REVEL 0.78, MetaLR 0.93
- H15H (p.His15His), rs757149716, gnomAD 10-8055700-C-T, CADD 14.00
- P16H (p.Pro16His), cosmic curated COSV10466, REVEL 0.41, MetaLR 0.81
- P16R (p.Pro16Arg), Ensembl rs2131482313
- P16S (p.Pro16Ser), gnomAD rs1346145007, REVEL 0.54, MetaLR 0.89
- P16T (p.Pro16Thr), gnomAD rs1346145007, REVEL 0.65, MetaLR 0.92
- P16L (p.Pro16Leu), gnomAD 10-8055702-C-T, REVEL 0.65, MetaLR 0.93
- P16P (p.Pro16Pro), rs1037226925, gnomAD 10-8055703-C-T, CADD 12.30
- A17S (p.Ala17Ser), TOPMed rs1170316331, gnomAD rs1170316331, REVEL 0.53, MetaLR 0.82, Uncertain significance, Inborn genetic diseases
- A17T (p.Ala17Thr), NCI-TCGA TCGA novel, TOPMed rs1170316331, gnomAD rs1170316331, REVEL 0.62, MetaLR 0.89, Variant assessed as somatic; moderate impact.
- A17V (p.Ala17Val), gnomAD rs1311260045, MetaLR 0.86, MetaSVM 0.87
- A17P (p.Ala17Pro), gnomAD 10-8055704-G-C, REVEL 0.69, MetaLR 0.83
- A17D (p.Ala17Asp), gnomAD 10-8055705-C-A, REVEL 0.79, MetaLR 0.92
- A17A (p.Ala17Ala), rs932657718, gnomAD 10-8055706-C-T, CADD 14.10
- V18A (p.Val18Ala), TOPMed rs985445864, gnomAD rs985445864, REVEL 0.57, MetaLR 0.88, Uncertain significance
- V18E (p.Val18Glu), TOPMed rs985445864, gnomAD rs985445864, Uncertain significance
- V18G (p.Val18Gly), rs985445864, ClinGen CA375965012, ClinVar RCV000722481, TOPMed rs985445864, Uncertain significance, not provided
- V18L (p.Val18Leu), TOPMed rs1415426826, gnomAD rs1415426826, REVEL 0.35, MetaLR 0.81, Uncertain significance
- V18M (p.Val18Met), rs1415426826, ClinGen CA375965008, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, REVEL 0.48, MetaLR 0.81, Uncertain significance, Hypoparathyroidism, deafness, renal disease syndrome
- V18V (p.Val18Val), rs767163950, gnomAD 10-8055709-G-A, CADD 11.40
- L19F (p.Leu19Phe), rs1014542996, ClinGen CA375965019, ClinVar RCV003672539, TOPMed rs1014542996, REVEL 0.63, MetaLR 0.89, Uncertain significance, not provided
- L19P (p.Leu19Pro), Ensembl rs2131482396, REVEL 0.79, MetaLR 0.93
- L19V (p.Leu19Val), TOPMed rs1014542996, gnomAD rs1014542996, REVEL 0.46, MetaLR 0.86, Uncertain significance
- L19I (p.Leu19Ile), gnomAD 10-8055710-C-A, REVEL 0.35, MetaLR 0.79
- L19H (p.Leu19His), gnomAD 10-8055711-T-A, REVEL 0.76, MetaLR 0.92
- L19L (p.Leu19Leu), gnomAD 10-8055712-C-A, CADD 13.70
- N20K (p.Asn20Lys), gnomAD rs1208325486, REVEL 0.58, MetaLR 0.85, Uncertain significance, Inborn genetic diseases
- N20S (p.Asn20Ser), cosmic curated COSV10582, TOPMed rs1355554271, gnomAD rs1355554271, REVEL 0.50, MetaLR 0.80, Uncertain significance, Hypoparathyroidism, deafness, renal disease syndrome
- N20D (p.Asn20Asp), gnomAD 10-8055713-A-G, REVEL 0.57, MetaLR 0.85
- N20N (p.Asn20Asn), rs1208325486, gnomAD 10-8055715-C-T, CADD 13.90
- G21E (p.Gly21Glu), Ensembl rs867903546, MetaLR 0.73, MetaSVM 0.30
- G21R (p.Gly21Arg), NCI-TCGA TCGA novel, Ensembl rs2131482429, REVEL 0.75, MetaLR 0.89, Variant assessed as somatic; moderate impact.
- G21V (p.Gly21Val), NCI-TCGA TCGA novel, REVEL 0.66, MetaLR 0.90, Variant assessed as somatic; moderate impact.
- p.Gly21 Pro24delinsAla, rs1203967321, gnomAD 10-8055716-GGGCAG, CADD 22.40
- G21W (p.Gly21Trp), gnomAD 10-8055716-G-T, REVEL 0.75, MetaLR 0.93
- G21A (p.Gly21Ala), gnomAD 10-8055717-G-C, REVEL 0.48, MetaLR 0.79
- G21G (p.Gly21Gly), rs1832621040, gnomAD 10-8055718-G-A, CADD 14.20
- Q22* (p.Gln22Ter), Ensembl rs2131482458, CADD 38.00
- Q22H (p.Gln22His), cosmic curated COSV10968, REVEL 0.69, MetaLR 0.93
- Q22K (p.Gln22Lys), cosmic curated COSV10591, REVEL 0.69, MetaLR 0.93
- Q22E (p.Gln22Glu), gnomAD 10-8055719-C-G, REVEL 0.62, MetaLR 0.93
- Q22Q (p.Gln22Gln), rs1832621123, gnomAD 10-8055721-G-A, CADD 13.70
- H23Y (p.His23Tyr), cosmic curated COSV10524, Ensembl rs2131482470, MetaLR 0.94, MetaSVM 1.08
- H23N (p.His23Asn), gnomAD 10-8055722-C-A, REVEL 0.75, MetaLR 0.93
- H23H (p.His23His), rs138345596, gnomAD 10-8055724-C-T, CADD 12.10
- H23Q (p.His23Gln), gnomAD 10-8055724-C-A, REVEL 0.70, MetaLR 0.92
- P24L (p.Pro24Leu), rs1485724723, ClinGen CA375965099, ClinVar RCV001337038, ClinVar RCV001871895, REVEL 0.72, MetaLR 0.89, Uncertain significance, not provided; Hypoparathyroidism, deafness, renal disease syndrome
- P24Q (p.Pro24Gln), TOPMed rs1485724723, gnomAD rs1485724723, REVEL 0.70, MetaLR 0.93, Uncertain significance
- P24T (p.Pro24Thr), gnomAD 10-8055725-C-A, REVEL 0.50, MetaLR 0.86
- P24P (p.Pro24Pro), gnomAD 10-8055727-G-T, CADD 13.90
- D25G (p.Asp25Gly), gnomAD rs1469106968, REVEL 0.36, MetaLR 0.73
- D25N (p.Asp25Asn), gnomAD rs1239729031, MetaLR 0.87, MetaSVM 0.87
- D25Y (p.Asp25Tyr), gnomAD 10-8055728-G-T, REVEL 0.69, AlphaMissense 1.00
- D25E (p.Asp25Glu), gnomAD 10-8055730-C-A, REVEL 0.34, AlphaMissense 0.93
- T26M (p.Thr26Met), Ensembl rs2131482524, MetaLR 0.87, MetaSVM 0.84
- T26P (p.Thr26Pro), gnomAD rs1832621545, REVEL 0.40, MetaLR 0.76
- T26A (p.Thr26Ala), gnomAD 10-8055731-A-G, REVEL 0.27, MetaLR 0.64
- T26K (p.Thr26Lys), gnomAD 10-8055732-C-A, REVEL 0.35, MetaLR 0.80
- T26T (p.Thr26Thr), rs2131482532, gnomAD 10-8055733-G-A, AlphaMissense 0.88, MetaLR 0.71
- H27A (p.His27Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- H27N (p.His27Asn), Ensembl rs2131482538, REVEL 0.73, MetaLR 0.93
- H27Q (p.His27Gln), TOPMed rs868292114, gnomAD rs868292114, Likely benign
- H27Y (p.His27Tyr), cosmic curated COSV10065, MetaLR 0.93, MetaSVM 1.05
- H27D (p.His27Asp), gnomAD 10-8055734-C-G, REVEL 0.80, MetaLR 0.93
- H27H (p.His27His), rs868292114, gnomAD 10-8055736-C-T, CADD 13.70
- H28L (p.His28Leu), TOPMed rs957809458, gnomAD rs957809458
- H28N (p.His28Asn), rs202045701, ClinGen CA5404285, ClinVar RCV003118771, ClinVar RCV003396896, REVEL 0.76, MetaLR 0.93, Conflicting interpretations, not provided; GATA3-related disorder; Hypoparathyroidism, deafness, renal diseas
- H28P (p.His28Pro), TOPMed rs957809458, gnomAD rs957809458, MetaLR 0.93, MetaSVM 1.04
- H28R (p.His28Arg), TOPMed rs957809458, gnomAD rs957809458, REVEL 0.75, MetaLR 0.92
- H28Y (p.His28Tyr), ExAC rs202045701, TOPMed rs202045701, gnomAD rs202045701, REVEL 0.71, MetaLR 0.93, Likely benign
- H28del (p.His28del), gnomAD 10-8055733-GCAC-G, CADD 22.20
- H28Q (p.His28Gln), gnomAD 10-8055739-C-G, REVEL 0.73, MetaLR 0.93
- H28H (p.His28His), rs2131482581, gnomAD 10-8055739-C-T, CADD 13.80
- P29L (p.Pro29Leu), ExAC rs758750439, TOPMed rs758750439, gnomAD rs758750439, REVEL 0.58, MetaLR 0.82, Conflicting interpretations, Inborn genetic diseases; not provided; Hypoparathyroidism, deafness, renal disea
- P29R (p.Pro29Arg), ExAC rs758750439, TOPMed rs758750439, gnomAD rs758750439, REVEL 0.67, MetaLR 0.92, Likely benign
- P29A (p.Pro29Ala), gnomAD 10-8055740-C-G, REVEL 0.52, MetaLR 0.81
- P29T (p.Pro29Thr), gnomAD 10-8055740-C-A, REVEL 0.60, MetaLR 0.87
- P29Q (p.Pro29Gln), gnomAD 10-8055741-C-A, REVEL 0.57, AlphaMissense 0.36
- P29P (p.Pro29Pro), gnomAD 10-8055742-G-C, CADD 12.70
- G30D (p.Gly30Asp), rs1588374874, ClinGen CA375965176, ClinVar RCV000821101, ClinVar RCV002271590, REVEL 0.38, MetaLR 0.81, Uncertain significance, not specified; not provided
- G30C (p.Gly30Cys), gnomAD 10-8055743-G-T, REVEL 0.69, MetaLR 0.91
- G30S (p.Gly30Ser), gnomAD 10-8055743-G-A, REVEL 0.32, MetaLR 0.83
- G30V (p.Gly30Val), gnomAD 10-8055744-G-T, REVEL 0.68, AlphaMissense 0.83
- G30A (p.Gly30Ala), gnomAD 10-8055744-G-C, REVEL 0.42, AlphaMissense 0.83
- G30G (p.Gly30Gly), gnomAD 10-8055745-C-T, AlphaMissense 0.35, MetaLR 0.57
- L31F (p.Leu31Phe), TOPMed rs913774132, gnomAD rs913774132, REVEL 0.35, MetaLR 0.86
- L31P (p.Leu31Pro), cosmic curated COSV10968, REVEL 0.73, MetaLR 0.93
- L31V (p.Leu31Val), TOPMed rs913774132, gnomAD rs913774132, REVEL 0.52, MetaLR 0.90
- L31I (p.Leu31Ile), gnomAD 10-8055746-C-A, REVEL 0.51, AlphaMissense 0.67
- L31L (p.Leu31Leu), gnomAD 10-8055748-C-A, CADD 13.90
- S32N (p.Ser32Asn), gnomAD rs1336321653, MetaLR 0.75, MetaSVM -0.04
- S32C (p.Ser32Cys), gnomAD 10-8055749-A-T, REVEL 0.32, AlphaMissense 0.97
- S32G (p.Ser32Gly), gnomAD 10-8055749-A-G, REVEL 0.26, AlphaMissense 0.95
- S32I (p.Ser32Ile), gnomAD 10-8055750-G-T, REVEL 0.24, MetaLR 0.76
- S32T (p.Ser32Thr), gnomAD 10-8055750-G-C, REVEL 0.24, MetaLR 0.72
- S32S (p.Ser32Ser), rs2131482647, gnomAD 10-8055751-C-T, CADD 14.70
- S32R (p.Ser32Arg), gnomAD 10-8055751-C-A, REVEL 0.23, MetaLR 0.78
- H33L (p.His33Leu), TOPMed rs966936841, gnomAD rs966936841, REVEL 0.90, MetaLR 0.94
- H33N (p.His33Asn), Ensembl rs1832622309, REVEL 0.83, MetaLR 0.95
- H33P (p.His33Pro), gnomAD 10-8055753-A-C, REVEL 0.87, MetaLR 0.93
- S34A (p.Ser34Ala), cosmic curated COSV10466
- S34C (p.Ser34Cys), Ensembl rs2131482668
- S34P (p.Ser34Pro), gnomAD 10-8055755-T-C, REVEL 0.61, MetaLR 0.82
- S34Y (p.Ser34Tyr), gnomAD 10-8055756-C-A, REVEL 0.52, MetaLR 0.84
- S34S (p.Ser34Ser), gnomAD 10-8055757-C-A, CADD 13.30
- Y35C (p.Tyr35Cys), cosmic curated COSV10065, TOPMed rs1310091920, REVEL 0.85, MetaLR 0.94
- Y35F (p.Tyr35Phe), TOPMed rs1310091920, REVEL 0.73, MetaLR 0.92
- Y35H (p.Tyr35His), gnomAD rs1280034142, REVEL 0.91, MetaLR 0.95
- Y35* (p.Tyr35Ter), gnomAD 10-8055760-C-A, AlphaMissense 0.81, MetaLR 0.54
- M36I (p.Met36Ile), cosmic curated COSV10740, REVEL 0.39, MetaLR 0.79
- M36R (p.Met36Arg), TOPMed rs1832622632, MetaLR 0.86, MetaSVM 0.72
- M36V (p.Met36Val), gnomAD rs939494825, REVEL 0.49, MetaLR 0.79, Uncertain significance, Inborn genetic diseases
- M36L (p.Met36Leu), gnomAD 10-8055761-A-C, REVEL 0.54, MetaLR 0.86
Public GATA3 analysis runs
- GATA3 analysis run — GATA3 (1,825 variants) — completed 2026-08-19