ClinVar Miner

List of variants reported as uncertain significance for CHARGE association by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 6
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HGVS dbSNP
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556

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