ClinVar Miner

List of variants in gene combination DSC2, DSCAS reported as likely benign

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.69+18C>T rs1274405499 0.00004
NM_024422.6(DSC2):c.69+8T>C rs921767833 0.00004
NM_024422.6(DSC2):c.-31C>T rs987510906 0.00003
NM_024422.6(DSC2):c.27C>T (p.Ser9=) rs1406804472 0.00002
NM_024422.6(DSC2):c.69+9A>G rs1268711423 0.00002
NM_024422.6(DSC2):c.-12C>G rs954770780 0.00001
NM_024422.6(DSC2):c.48G>A (p.Arg16=) rs1327911404 0.00001
NM_024422.6(DSC2):c.60G>A (p.Leu20=) rs1201166808 0.00001
NC_000018.10:g.31102565T>C rs73952600
NM_024422.6(DSC2):c.-22C>T rs1057522922
NM_024422.6(DSC2):c.-243_-234del rs552918051
NM_024422.6(DSC2):c.12C>A (p.Ala4=) rs1555641335
NM_024422.6(DSC2):c.13C>G (p.Arg5Gly) rs1987978697
NM_024422.6(DSC2):c.24C>T (p.Gly8=) rs1987977472
NM_024422.6(DSC2):c.32_34delinsGCA (p.Asn11_Gly12delinsSerArg) rs1987976516
NM_024422.6(DSC2):c.33C>T (p.Asn11=) rs1987976628
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg) rs568391206
NM_024422.6(DSC2):c.36A>T (p.Gly12=)
NM_024422.6(DSC2):c.45C>T (p.Cys15=)
NM_024422.6(DSC2):c.46C>A (p.Arg16=) rs1987975647
NM_024422.6(DSC2):c.54C>A (p.Leu18=)
NM_024422.6(DSC2):c.63C>T (p.Thr21=)
NM_024422.6(DSC2):c.66C>T (p.Leu22=) rs1987974460
NM_024422.6(DSC2):c.69+12C>A rs1326854054
NM_024422.6(DSC2):c.69+15G>C
NM_024422.6(DSC2):c.69+7G>A rs544403465
NM_024422.6(DSC2):c.69+83dup rs543480937
NM_024422.6(DSC2):c.69+9A>T

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