ClinVar Miner

List of variants reported as likely pathogenic for Heart, malformation of

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Total variants: 7
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HGVS dbSNP
NM_000192.3(TBX5):c.301A>T (p.Ile101Phe) rs515726234
NM_002471.3(MYH6):c.2033A>G (p.Asn678Ser) rs515726230
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
NM_004387.4(NKX2-5):c.400_402delinsAT (p.Arg134fs) rs397516908
NM_017617.5(NOTCH1):c.2014+1G>A rs515726232
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His) rs515726233
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs) rs515726231

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