ClinVar Miner

List of variants reported as likely benign for atrioventricular septal defect 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 263
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_001308093.3(GATA4):c.348C>T (p.Ser116=) rs772532276 0.00044
NM_001308093.3(GATA4):c.531C>A (p.Ala177=) rs573733348 0.00034
NM_001308093.3(GATA4):c.786+8C>T rs371709162 0.00029
NM_001308093.3(GATA4):c.802G>A (p.Val268Met) rs116781972 0.00029
NC_000008.11:g.11703278T>C rs372004083 0.00027
NM_001308093.3(GATA4):c.616+15G>A rs767068839 0.00025
NM_001308093.3(GATA4):c.72C>G (p.Gly24=) rs746574040 0.00022
NM_001308093.3(GATA4):c.1126G>A (p.Gly376Arg) rs149872786 0.00019
NM_001308093.3(GATA4):c.585G>C (p.Arg195=) rs1040398846 0.00019
NM_001308093.3(GATA4):c.1000+8A>G rs368991642 0.00017
NM_001308093.3(GATA4):c.1029C>T (p.Pro343=) rs368098911 0.00015
NM_001308093.3(GATA4):c.246C>A (p.Thr82=) rs1037655842 0.00011
NM_001308093.3(GATA4):c.1152G>A (p.Thr384=) rs147958528 0.00010
NM_001308093.3(GATA4):c.15G>A (p.Leu5=) rs55635838 0.00010
NM_001308093.3(GATA4):c.1167G>A (p.Ala389=) rs55968178 0.00009
NM_001308093.3(GATA4):c.867C>T (p.Gly289=) rs781143539 0.00009
NM_001308093.3(GATA4):c.106C>G (p.Pro36Ala) rs1431477414 0.00008
NM_001308093.3(GATA4):c.13T>C (p.Leu5=) rs55670878 0.00007
NM_001308093.3(GATA4):c.678C>T (p.Thr226=) rs759042604 0.00007
NM_001308093.3(GATA4):c.127C>A (p.Arg43=) rs387906770 0.00006
NM_001308093.3(GATA4):c.330C>T (p.Phe110=) rs779273192 0.00006
NM_001308093.3(GATA4):c.609C>T (p.Pro203=) rs1210009123 0.00006
NM_001308093.3(GATA4):c.786+16G>A rs200555437 0.00005
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=) rs771755685 0.00004
NM_001308093.3(GATA4):c.1311C>T (p.His437=) rs779684582 0.00004
NM_001308093.3(GATA4):c.720C>T (p.Asn240=) rs747431380 0.00004
NM_001308093.3(GATA4):c.747C>T (p.Asn249=) rs140212153 0.00004
NM_001308093.3(GATA4):c.789C>T (p.Ser263=) rs777744927 0.00004
NM_001308093.3(GATA4):c.957A>G (p.Arg319=) rs746390280 0.00004
NM_001308093.3(GATA4):c.1206G>A (p.Ser402=) rs141909277 0.00003
NM_001308093.3(GATA4):c.762G>A (p.Pro254=) rs143454176 0.00003
NM_001308093.3(GATA4):c.930A>G (p.Ala310=) rs779911000 0.00003
NM_001308093.3(GATA4):c.195C>T (p.Gly65=) rs752600136 0.00002
NM_001308093.3(GATA4):c.459C>T (p.Gly153=) rs1178980770 0.00002
NM_001308093.3(GATA4):c.486C>T (p.Tyr162=) rs1253695712 0.00002
NM_001308093.3(GATA4):c.786+15C>T rs374933423 0.00002
NM_001308093.3(GATA4):c.861G>A (p.Ala287=) rs757208344 0.00002
NM_001308093.3(GATA4):c.909C>T (p.His303=) rs201516339 0.00002
NM_001308093.3(GATA4):c.1001-13T>C rs913114491 0.00001
NM_001308093.3(GATA4):c.1008A>G (p.Ser336=) rs752425131 0.00001
NM_001308093.3(GATA4):c.1077C>T (p.Ser359=) rs375407669 0.00001
NM_001308093.3(GATA4):c.1088G>A (p.Arg363His) rs139893755 0.00001
NM_001308093.3(GATA4):c.1095C>A (p.Ile365=) rs1554498776 0.00001
NM_001308093.3(GATA4):c.1104G>A (p.Glu368=) rs769775284 0.00001
NM_001308093.3(GATA4):c.1149+8C>T rs1490422997 0.00001
NM_001308093.3(GATA4):c.1150-7T>C rs776340600 0.00001
NM_001308093.3(GATA4):c.1161C>T (p.Val387=) rs372993566 0.00001
NM_001308093.3(GATA4):c.1200C>A (p.Val400=) rs778818575 0.00001
NM_001308093.3(GATA4):c.1242C>T (p.Pro414=) rs761007335 0.00001
NM_001308093.3(GATA4):c.159C>T (p.Tyr53=) rs1258554563 0.00001
NM_001308093.3(GATA4):c.336G>A (p.Gly112=) rs748572046 0.00001
NM_001308093.3(GATA4):c.375G>A (p.Ala125=) rs1368525776 0.00001
NM_001308093.3(GATA4):c.510C>A (p.Gly170=) rs1272768214 0.00001
NM_001308093.3(GATA4):c.576G>T (p.Leu192=) rs1189744811 0.00001
NM_001308093.3(GATA4):c.582C>T (p.Gly194=) rs1467767687 0.00001
NM_001308093.3(GATA4):c.588C>T (p.Ala196=) rs1060503829 0.00001
NM_001308093.3(GATA4):c.594G>A (p.Pro198=) rs1213779475 0.00001
NM_001308093.3(GATA4):c.616+18G>T rs1174507680 0.00001
NM_001308093.3(GATA4):c.645C>T (p.Gly215=) rs1411266373 0.00001
NM_001308093.3(GATA4):c.69C>T (p.Pro23=) rs1411452741 0.00001
NM_001308093.3(GATA4):c.732C>G (p.Leu244=) rs200443296 0.00001
NM_001308093.3(GATA4):c.768C>A (p.Ile256=) rs760250504 0.00001
NM_001308093.3(GATA4):c.786+11G>A rs1165880305 0.00001
NM_001308093.3(GATA4):c.804G>A (p.Val268=) rs774926374 0.00001
NM_001308093.3(GATA4):c.855C>T (p.Arg285=) rs758475308 0.00001
NM_001308093.3(GATA4):c.906C>T (p.Leu302=) rs1289378857 0.00001
NM_001308093.3(GATA4):c.912+7G>T rs759872773 0.00001
NM_001308093.3(GATA4):c.969C>G (p.Pro323=) rs1802489642 0.00001
NM_001308093.3(GATA4):c.1000+12A>G
NM_001308093.3(GATA4):c.1000+14del
NM_001308093.3(GATA4):c.1000+17_1000+18del
NM_001308093.3(GATA4):c.1000+19A>G rs2130338672
NM_001308093.3(GATA4):c.1001-16C>T
NM_001308093.3(GATA4):c.1001-20C>G
NM_001308093.3(GATA4):c.1001-7A>T
NM_001308093.3(GATA4):c.1017G>A (p.Glu339=)
NM_001308093.3(GATA4):c.1035C>T (p.Ser345=) rs755482369
NM_001308093.3(GATA4):c.1053C>T (p.Ser351=)
NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)
NM_001308093.3(GATA4):c.1068C>A (p.Thr356=) rs775324602
NM_001308093.3(GATA4):c.1089T>A (p.Arg363=) rs143385784
NM_001308093.3(GATA4):c.1089T>C (p.Arg363=) rs143385784
NM_001308093.3(GATA4):c.1101G>A (p.Thr367=) rs771381966
NM_001308093.3(GATA4):c.1101G>C (p.Thr367=) rs771381966
NM_001308093.3(GATA4):c.1111C>T (p.Leu371=)
NM_001308093.3(GATA4):c.1116A>T (p.Ser372=) rs112435835
NM_001308093.3(GATA4):c.111C>A (p.Val37=) rs1585595173
NM_001308093.3(GATA4):c.1128G>A (p.Gly376=) rs781488882
NM_001308093.3(GATA4):c.1128G>C (p.Gly376=)
NM_001308093.3(GATA4):c.1149+15T>G
NM_001308093.3(GATA4):c.1149+20C>T
NM_001308093.3(GATA4):c.1149+7G>A rs781457045
NM_001308093.3(GATA4):c.1149+7G>T rs781457045
NM_001308093.3(GATA4):c.1150-14T>C
NM_001308093.3(GATA4):c.1150-18G>A
NM_001308093.3(GATA4):c.1150-18G>C rs751207561
NM_001308093.3(GATA4):c.1150-20del
NM_001308093.3(GATA4):c.1150-8C>T
NM_001308093.3(GATA4):c.1155C>T (p.Phe385=)
NM_001308093.3(GATA4):c.1188C>A (p.Ser396=)
NM_001308093.3(GATA4):c.1188C>T (p.Ser396=)
NM_001308093.3(GATA4):c.1203C>G (p.Leu401=)
NM_001308093.3(GATA4):c.1209C>T (p.Ala403=) rs2130355423
NM_001308093.3(GATA4):c.120C>T (p.Pro40=)
NM_001308093.3(GATA4):c.1218C>T (p.Leu406=)
NM_001308093.3(GATA4):c.1221C>G (p.Ser407=) rs2130355480
NM_001308093.3(GATA4):c.1224A>G (p.Pro408=)
NM_001308093.3(GATA4):c.1233T>C (p.Tyr411=)
NM_001308093.3(GATA4):c.123A>G (p.Thr41=)
NM_001308093.3(GATA4):c.1254T>C (p.Ser418=) rs1060503828
NM_001308093.3(GATA4):c.1290C>T (p.Ser430=)
NM_001308093.3(GATA4):c.1296C>G (p.Val432=)
NM_001308093.3(GATA4):c.1296C>T (p.Val432=)
NM_001308093.3(GATA4):c.129G>A (p.Arg43=) rs1563199849
NM_001308093.3(GATA4):c.129G>T (p.Arg43=) rs1563199849
NM_001308093.3(GATA4):c.12C>T (p.Ser4=)
NM_001308093.3(GATA4):c.1302C>T (p.Ala434=)
NM_001308093.3(GATA4):c.1305C>T (p.Asp435=)
NM_001308093.3(GATA4):c.1314G>A (p.Gly438=)
NM_001308093.3(GATA4):c.1328C>G (p.Ala443Gly) rs146017816
NM_001308093.3(GATA4):c.135C>G (p.Pro45=) rs1297614525
NM_001308093.3(GATA4):c.141C>G (p.Ser47=)
NM_001308093.3(GATA4):c.151C>T (p.Leu51=)
NM_001308093.3(GATA4):c.174C>A (p.Gly58=)
NM_001308093.3(GATA4):c.174C>T (p.Gly58=)
NM_001308093.3(GATA4):c.177G>A (p.Ala59=)
NM_001308093.3(GATA4):c.183T>C (p.Ser61=)
NM_001308093.3(GATA4):c.183T>G (p.Ser61=)
NM_001308093.3(GATA4):c.186G>A (p.Ala62=) rs1466381420
NM_001308093.3(GATA4):c.195C>A (p.Gly65=)
NM_001308093.3(GATA4):c.204C>A (p.Gly68=) rs1800003368
NM_001308093.3(GATA4):c.219G>C (p.Gly73=) rs1057052962
NM_001308093.3(GATA4):c.219G>T (p.Gly73=)
NM_001308093.3(GATA4):c.222C>A (p.Ala74=)
NM_001308093.3(GATA4):c.222C>G (p.Ala74=)
NM_001308093.3(GATA4):c.243G>C (p.Gly81=)
NM_001308093.3(GATA4):c.246C>G (p.Thr82=) rs1037655842
NM_001308093.3(GATA4):c.24C>G (p.Ala8=)
NM_001308093.3(GATA4):c.24C>T (p.Ala8=)
NM_001308093.3(GATA4):c.255C>T (p.Gly85=)
NM_001308093.3(GATA4):c.258C>T (p.Ser86=)
NM_001308093.3(GATA4):c.270C>T (p.Ser90=)
NM_001308093.3(GATA4):c.273G>A (p.Gln91=) rs1585595804
NM_001308093.3(GATA4):c.276G>A (p.Ala92=)
NM_001308093.3(GATA4):c.300C>A (p.Thr100=) rs1585595889
NM_001308093.3(GATA4):c.303G>A (p.Pro101=) rs1585595911
NM_001308093.3(GATA4):c.306G>T (p.Pro102=) rs1336667597
NM_001308093.3(GATA4):c.309G>A (p.Pro103=)
NM_001308093.3(GATA4):c.309G>T (p.Pro103=)
NM_001308093.3(GATA4):c.312G>T (p.Val104=)
NM_001308093.3(GATA4):c.315G>A (p.Ser105=) rs1329688744
NM_001308093.3(GATA4):c.321C>G (p.Arg107=)
NM_001308093.3(GATA4):c.333G>A (p.Pro111=) rs1331416104
NM_001308093.3(GATA4):c.336G>T (p.Gly112=)
NM_001308093.3(GATA4):c.342C>A (p.Thr114=)
NM_001308093.3(GATA4):c.342C>T (p.Thr114=)
NM_001308093.3(GATA4):c.357C>G (p.Ala119=) rs2130069809
NM_001308093.3(GATA4):c.360C>T (p.Ala120=)
NM_001308093.3(GATA4):c.366C>A (p.Ala122=)
NM_001308093.3(GATA4):c.366C>T (p.Ala122=) rs1471365872
NM_001308093.3(GATA4):c.369T>C (p.Ala123=)
NM_001308093.3(GATA4):c.369T>G (p.Ala123=)
NM_001308093.3(GATA4):c.36G>A (p.Gly12=)
NM_001308093.3(GATA4):c.378C>T (p.Ala126=)
NM_001308093.3(GATA4):c.387T>A (p.Ala129=)
NM_001308093.3(GATA4):c.390G>A (p.Ala130=) rs2130070163
NM_001308093.3(GATA4):c.393C>A (p.Ala131=)
NM_001308093.3(GATA4):c.399C>T (p.Ser133=)
NM_001308093.3(GATA4):c.423G>A (p.Ala141=) rs1404734578
NM_001308093.3(GATA4):c.427C>T (p.Leu143=) rs2130070594
NM_001308093.3(GATA4):c.429G>C (p.Leu143=)
NM_001308093.3(GATA4):c.432G>T (p.Ala144=) rs1356013644
NM_001308093.3(GATA4):c.438C>G (p.Arg146=)
NM_001308093.3(GATA4):c.441G>A (p.Glu147=) rs1800019637
NM_001308093.3(GATA4):c.444G>A (p.Gln148=) rs1352635163
NM_001308093.3(GATA4):c.450G>T (p.Gly150=)
NM_001308093.3(GATA4):c.456C>T (p.Ala152=)
NM_001308093.3(GATA4):c.465G>A (p.Ala155=)
NM_001308093.3(GATA4):c.474C>T (p.Tyr158=)
NM_001308093.3(GATA4):c.480C>T (p.Ser160=) rs2130071100
NM_001308093.3(GATA4):c.483C>T (p.Pro161=)
NM_001308093.3(GATA4):c.495C>T (p.Tyr165=)
NM_001308093.3(GATA4):c.501C>G (p.Ala167=)
NM_001308093.3(GATA4):c.516C>T (p.Ser172=)
NM_001308093.3(GATA4):c.525A>T (p.Ala175=)
NM_001308093.3(GATA4):c.531C>G (p.Ala177=)
NM_001308093.3(GATA4):c.543C>A (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.543C>G (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.543C>T (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.546C>T (p.Gly182=) rs2130071849
NM_001308093.3(GATA4):c.549C>T (p.Pro183=)
NM_001308093.3(GATA4):c.552C>T (p.Phe184=)
NM_001308093.3(GATA4):c.561G>A (p.Pro187=)
NM_001308093.3(GATA4):c.561G>T (p.Pro187=)
NM_001308093.3(GATA4):c.564C>G (p.Val188=)
NM_001308093.3(GATA4):c.567G>A (p.Leu189=) rs1554488672
NM_001308093.3(GATA4):c.570C>T (p.His190=)
NM_001308093.3(GATA4):c.579C>T (p.Pro193=)
NM_001308093.3(GATA4):c.594G>T (p.Pro198=) rs1213779475
NM_001308093.3(GATA4):c.597C>G (p.Ala199=)
NM_001308093.3(GATA4):c.601C>A (p.Arg201=)
NM_001308093.3(GATA4):c.603A>G (p.Arg201=)
NM_001308093.3(GATA4):c.616+10A>C
NM_001308093.3(GATA4):c.616+13G>T
NM_001308093.3(GATA4):c.616+15G>C rs767068839
NM_001308093.3(GATA4):c.616+17G>C
NM_001308093.3(GATA4):c.617-12C>A rs763950464
NM_001308093.3(GATA4):c.617-13C>T
NM_001308093.3(GATA4):c.617-16G>T
NM_001308093.3(GATA4):c.639A>C (p.Ser213=)
NM_001308093.3(GATA4):c.63C>G (p.Gly21=)
NM_001308093.3(GATA4):c.657C>T (p.Val219=)
NM_001308093.3(GATA4):c.678C>A (p.Thr226=)
NM_001308093.3(GATA4):c.681G>A (p.Pro227=)
NM_001308093.3(GATA4):c.684C>G (p.Leu228=) rs1563227410
NM_001308093.3(GATA4):c.693A>T (p.Arg231=)
NM_001308093.3(GATA4):c.699G>C (p.Gly233=) rs2130307080
NM_001308093.3(GATA4):c.69C>G (p.Pro23=)
NM_001308093.3(GATA4):c.702G>C (p.Thr234=) rs55788387
NM_001308093.3(GATA4):c.72C>T (p.Gly24=)
NM_001308093.3(GATA4):c.765C>T (p.Leu255=)
NM_001308093.3(GATA4):c.774T>C (p.Pro258=)
NM_001308093.3(GATA4):c.786+10T>G
NM_001308093.3(GATA4):c.786+17C>T
NM_001308093.3(GATA4):c.786+9G>A
NM_001308093.3(GATA4):c.786+9G>T rs752147603
NM_001308093.3(GATA4):c.787-11C>T rs1802226812
NM_001308093.3(GATA4):c.787-20A>G rs2130312704
NM_001308093.3(GATA4):c.787-4G>A
NM_001308093.3(GATA4):c.787-5T>C
NM_001308093.3(GATA4):c.787-9G>C
NM_001308093.3(GATA4):c.834C>T (p.Thr278=)
NM_001308093.3(GATA4):c.840C>T (p.Thr280=) rs141114164
NM_001308093.3(GATA4):c.846G>C (p.Leu282=)
NM_001308093.3(GATA4):c.84C>T (p.His28=)
NM_001308093.3(GATA4):c.852C>G (p.Arg284=)
NM_001308093.3(GATA4):c.858T>C (p.Asn286=)
NM_001308093.3(GATA4):c.861G>T (p.Ala287=)
NM_001308093.3(GATA4):c.879C>T (p.Cys293=) rs2130313407
NM_001308093.3(GATA4):c.903G>A (p.Lys301=) rs1585687961
NM_001308093.3(GATA4):c.912+11C>A
NM_001308093.3(GATA4):c.912+11C>T
NM_001308093.3(GATA4):c.912+17C>T
NM_001308093.3(GATA4):c.912+19C>G
NM_001308093.3(GATA4):c.912+19C>T
NM_001308093.3(GATA4):c.912+7G>C
NM_001308093.3(GATA4):c.912+9G>A
NM_001308093.3(GATA4):c.913-14T>C
NM_001308093.3(GATA4):c.913-16A>C
NM_001308093.3(GATA4):c.913-16A>G rs1802484971
NM_001308093.3(GATA4):c.913-18T>G
NM_001308093.3(GATA4):c.913-19T>A
NM_001308093.3(GATA4):c.913-4C>T rs947982256
NM_001308093.3(GATA4):c.913-8C>A
NM_001308093.3(GATA4):c.921G>A (p.Arg307=)
NM_001308093.3(GATA4):c.934C>A (p.Arg312=) rs138404762
NM_001308093.3(GATA4):c.93C>A (p.Gly31=)
NM_001308093.3(GATA4):c.963G>A (p.Arg321=) rs2130338269
NM_001308093.3(GATA4):c.966G>A (p.Lys322=) rs995668697
NM_001308093.3(GATA4):c.978G>T (p.Leu326=) rs939153862
NM_001308093.3(GATA4):c.999A>C (p.Ala333=) rs1554498361

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