ClinVar Miner

List of variants in gene GATA4 reported as pathogenic for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09369
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
NM_001308093.3(GATA4):c.*1168T>C rs549543886 0.00185
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) rs864321699 0.00001
NC_000008.10:g.(?_11565822)_(11566457_?)del
NC_000008.11:g.(?_11703278)_(11759996_?)del
NM_001308093.3(GATA4):c.1000+103G>T rs113049875
NM_001308093.3(GATA4):c.1000+2T>G rs864321705
NM_001308093.3(GATA4):c.1001-26G>A rs1554498708
NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter) rs368489876
NM_001308093.3(GATA4):c.1078del (p.Glu360fs) rs1585703301
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001308093.3(GATA4):c.1266C>T (p.Ser422=) rs864321704
NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp) rs387906770
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val) rs146017816
NM_001308093.3(GATA4):c.155C>T (p.Ser52Phe) rs104894074
NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp) rs864321698
NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter) rs2130068999
NM_001308093.3(GATA4):c.27C>A (p.Ala9=) rs864321703
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.383A>T (p.Glu128Val) rs864321700
NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys) rs864321701
NM_001308093.3(GATA4):c.409G>T (p.Gly137Ter)
NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del) rs1453901762
NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter) rs1799991762
NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter) rs1799991762
NM_001308093.3(GATA4):c.655_656del (p.Val219fs)
NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg) rs864321702
NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter) rs2130307055
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.854G>A (p.Arg285His) rs2130313276
NM_001308093.3(GATA4):c.887G>C (p.Cys296Ser)
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) rs104894073
NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg) rs104894073
NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys) rs104894073
NM_001308093.3(GATA4):c.913-55T>C rs1554498312
NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)
NM_001308093.3(GATA4):c.931A>G (p.Met311Val) rs387906772
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569

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