List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	rs151344631	0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.477+1G>A	rs762814879	0.00001
NM_000218.3(KCNQ1):c.477+5G>A	rs397508111	0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	rs199473394	0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	rs120074186	0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	rs199472990	0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	rs727503166	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	rs397508087
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	rs397508120
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	rs397516089
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)	rs727503269
NM_000257.4(MYH7):c.732+1G>A	rs730880850
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)	rs730880856

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