List of variants reported as pathogenic for congenital heart disease by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	rs139042529
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	rs137854613
NM_001451.3(FOXF1):c.965del (p.Pro322fs)	rs1969566429

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