List of variants reported as pathogenic for congenital heart disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
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.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)	rs137854618	0.00001
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_004387.4(NKX2-5):c.439del (p.Gln147fs)	rs1761360431

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