ClinVar Miner

List of variants reported as pathogenic for familial atrioventricular septal defect

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp) rs1476787716 0.00001
GRCh37/hg19 16p11.2(chr16:28615644-29042118)
NC_000008.10:g.(?_11565822)_(11566457_?)del
NC_000008.10:g.(?_11565822)_(11615984_?)del
NC_000008.11:g.(?_11703278)_(11758495_?)del
NC_000008.11:g.(?_11703278)_(11759996_?)del
NC_000018.10:g.(?_22168362)_(22172289_?)del
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter) rs368489876
NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter) rs2130068999
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.686G>A (p.Trp229Ter)
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.923C>G (p.Pro308Arg)
NM_005257.6(GATA6):c.1151_1155del (p.Leu384fs)
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter) rs2143300665
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs) rs2143300954
NM_005257.6(GATA6):c.1456_1468del (p.Glu486fs)
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) rs1598737972
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter) rs1598737976
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter) rs2033057699
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) rs748106387
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter) rs1899172049
NM_021005.4(NR2F2):c.232G>T (p.Glu78Ter)
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) rs1555447012
NM_021005.4(NR2F2):c.576del (p.Thr193fs)
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter) rs2141169116
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) rs587777372
NM_021005.4(NR2F2):c.856dup (p.Val286fs) rs886041730
NM_021005.4(NR2F2):c.970+1G>A rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) rs1899167019

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