ClinVar Miner

List of variants reported for Heart, malformation of by Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2033A>G (p.Asn678Ser) rs515726230
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
NM_181486.4(TBX5):c.301A>T (p.Ile101Phe) rs515726234
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382

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