ClinVar Miner

List of variants in gene DSC2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NC_000018.9:g.(?_28673502)_(28673626_?)dup
NM_024422.6(DSC2):c.101dup (p.Asn34fs) rs1555640396
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter) rs1555638995
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.154+1G>A rs397517393
NM_024422.6(DSC2):c.1631_1632TA[4] (p.Asn546fs) rs1555638622
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.473del (p.Gln158fs) rs1064795963
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) rs746173561
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.943-1G>A rs796756333
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.