ClinVar Miner

List of variants in gene DSC2 reported by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 20
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HGVS dbSNP
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.1264-5C>T rs183614856
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.1521-7C>T rs374810953
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.943-1G>A rs796756333

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