ClinVar Miner

List of variants reported as likely pathogenic for atrial septal defect by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059 0.00006
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
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

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