ClinVar Miner

List of variants in gene DSC2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 11
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HGVS dbSNP
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) rs145710244
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.474+5C>T rs397517400
NM_024422.6(DSC2):c.529G>A (p.Gly177Arg) rs1567981666
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956

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