List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Blueprint Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)	rs199472918	0.00006
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	rs28937316	0.00001
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	rs199472936
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	rs199472944
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)	rs189014161
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)	rs199472995
NM_000238.4(KCNH2):c.453del (p.Thr152fs)	rs761863251
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)	rs730880116
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)	rs199472884
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	rs72549410
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly)	rs199473371
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	rs199473384
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg)	rs786205745

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