ClinVar Miner

List of variants in gene combination DSC2, DSCAS reported by GeneDx

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_024422.6(DSC2):c.69+29G>A rs550092576 0.02107
NM_024422.6(DSC2):c.-298C>T rs149977713 0.01170
NM_024422.6(DSC2):c.69+103G>C rs545884156 0.00501
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 0.00093
NM_024422.6(DSC2):c.-25C>G rs904308285 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.-31C>T rs987510906 0.00003
NM_024422.6(DSC2):c.26C>G (p.Ser9Cys) rs794728064 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NC_000018.10:g.31102565T>C rs73952600
NC_000018.10:g.31102708del rs144459197
NM_024422.6(DSC2):c.-22C>T rs1057522922
NM_024422.6(DSC2):c.-243_-234del rs552918051
NM_024422.6(DSC2):c.-45A>C rs587780924
NM_024422.6(DSC2):c.11C>T (p.Ala4Val)
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter) rs1555641322
NM_024422.6(DSC2):c.38C>T (p.Ala13Val) rs1404155315
NM_024422.6(DSC2):c.69+83dup rs543480937

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