ClinVar Miner

List of variants in gene DSC2 reported by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 14
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HGVS dbSNP
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
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.2125+1del rs794728072
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.2616C>T (p.Cys872=) rs61731920
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.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591
NM_024422.6(DSC2):c.943-1G>A rs796756333

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