ClinVar Miner

List of variants reported as benign for atrioventricular septal defect 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001308093.3(GATA4):c.1001-269G>T rs4841587 0.36715
NM_001308093.3(GATA4):c.1001-219G>T rs4841588 0.18594
NM_001308093.3(GATA4):c.-543C>T rs61277615 0.17297
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=) rs56206007 0.01003
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=) rs7830178 0.00435
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.462C>T (p.Phe154=) rs56348550 0.00232
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_001308093.3(GATA4):c.1140C>T (p.Ser380=) rs34393445 0.00161
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_001308093.3(GATA4):c.888C>T (p.Cys296=) rs143109496 0.00083
NM_001308093.3(GATA4):c.918C>T (p.Pro306=) rs147050993 0.00044
NM_001308093.3(GATA4):c.1001-4C>G rs199915980 0.00024
NM_001308093.3(GATA4):c.726C>T (p.Cys242=) rs1062215 0.00021
NM_001308093.3(GATA4):c.630C>T (p.Asp210=) rs192122549 0.00019
NC_000008.11:g.11703355C>A rs769262495 0.00016
NM_001308093.3(GATA4):c.90G>A (p.Ala30=) rs768982638 0.00014
NM_001308093.3(GATA4):c.1125C>T (p.Tyr375=) rs56330552 0.00013
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001308093.3(GATA4):c.1329G>A (p.Ala443=) rs745735974 0.00006
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser) rs200167770 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001308093.3(GATA4):c.787-16G>A rs201533584 0.00003
NM_001308093.3(GATA4):c.912+15C>T rs375658877 0.00002
NM_001308093.3(GATA4):c.223G>T (p.Ala75Ser) rs556967140 0.00001
NM_001308093.3(GATA4):c.234G>A (p.Ala78=) rs756850527 0.00001
NM_001308093.3(GATA4):c.*1521C>G rs3203358
NM_001308093.3(GATA4):c.1076G>C (p.Ser359Thr) rs536598649
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387

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