List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 11

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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_001386795.1(DTNA):c.177A>G (p.Ile59Met)	rs1057518968	0.00002
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	rs120074177
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	rs1057518422
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)	rs1057518868
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	rs180177039
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	rs1057518914
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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