ClinVar Miner

List of variants in gene DSC2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.2251-20G>A rs779900062 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1238A>T (p.Asn413Ile)
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1436G>C (p.Arg479Pro) rs774641579
NM_024422.6(DSC2):c.1521G>A (p.Arg507=)
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) rs762973455
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2412C>A (p.His804Gln) rs1986728077
NM_024422.6(DSC2):c.354+15A>C rs1303672773
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
NM_024422.6(DSC2):c.70-18dup rs572309510

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