ClinVar Miner

List of variants in gene GATA3 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
GATA3, 12-BP DEL, NT946-957
GATA3, 2-BP INS, 3-BP INS
GATA3, 250-KB DEL
GATA3, 49-BP DEL, NT465-513
GATA3, 900-KB DEL
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) rs387906621
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) rs104894165
NM_001002295.2(GATA3):c.108_109del (p.Met36fs) rs1588374920
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.324del (p.Ala109fs)
NM_001002295.2(GATA3):c.389del (p.Leu130fs)
NM_001002295.2(GATA3):c.431del (p.Gly144fs) rs1588377948
NM_001002295.2(GATA3):c.431dup (p.His145fs)
NM_001002295.2(GATA3):c.478del (p.Asp160fs) rs1588378126
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs) rs878853222
NM_001002295.2(GATA3):c.708del (p.Ser237fs) rs771019738
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) rs104894163
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) rs104894162
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC rs387906551
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)

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