ClinVar Miner

List of variants reported as likely pathogenic for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059 0.00006
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
46;XX;inv(7)(q21.2q34)
46;XY;t(2;14)(p22;q24.3)dn
46;XY;t(3;5)(q23;q13)dn
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) rs1114167356
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.654+1G>C
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) rs1085307769
NM_004115.4(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu) rs2113901956
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro) rs2113901873
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) rs1581108237
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
NM_004387.4(NKX2-5):c.752del (p.Asn251fs) rs879253754
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter) rs1761346424
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr) rs2140432240
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) rs1595761333
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs) rs2140430645
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) rs1583066622
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) rs1555706928
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) rs367557471
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) rs1565941579

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