ClinVar Miner

List of variants in gene DSC2 reported by Biesecker Lab/Clinical Genomics Section,National Institutes of Health

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Total variants: 18
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HGVS dbSNP
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
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.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2392C>A (p.Arg798=) rs201548399
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2509-111_2509-110del rs786205428
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735

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