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: 26
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) rs145710244 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala) rs531245154 0.00002
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser) rs1462605063 0.00001
NM_024422.6(DSC2):c.2108G>T (p.Gly703Val) rs1218967716 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys) rs1265924444 0.00001
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956 0.00001
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) rs765374888
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.529G>A (p.Gly177Arg) rs1567981666
NM_024422.6(DSC2):c.687AAT[1] (p.Ile231del) rs2144833873
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) rs794728067

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