ClinVar Miner

List of variants in gene GATA4 studied for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 0.00019
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) rs773545065 0.00003
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_001308093.3(GATA4):c.1078del (p.Glu360fs) rs1585703301
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_001308093.3(GATA4):c.155C>T (p.Ser52Phe) rs104894074
NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter) rs2130307055
NM_001308093.3(GATA4):c.786+16G>T rs200555437
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser) rs1356876573
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met) rs387906771
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.854_856del (p.Arg285_Asn286delinsHis)
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) rs104894073
NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys) rs104894073
NM_001308093.3(GATA4):c.931A>G (p.Met311Val) rs387906772
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424

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