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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	rs77331749	0.00056
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)	rs199472958	0.00003
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)	rs199472902	0.00001
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)	rs869025448
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)	rs199472946
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)	rs199472951
NM_000238.4(KCNH2):c.774dup (p.Asp259fs)	rs869025447
NM_000238.4(KCNH2):c.842dup (p.Ala282fs)	rs730880374
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)	rs750835733
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)	rs199473369
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	rs121912997
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter)	rs730880043

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