ClinVar Miner

List of variants in gene DSC2 reported by Blueprint Genetics,

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Total variants: 17
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HGVS dbSNP
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile) rs587782937
NM_024422.6(DSC2):c.1219G>T (p.Val407Leu) rs751861273
NM_024422.6(DSC2):c.1264-4G>A rs377439942
NM_024422.6(DSC2):c.1290G>C (p.Gln430His)
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr)
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2197G>A (p.Ala733Thr) rs730880076
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404

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