ClinVar Miner

List of variants in gene DSC2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) rs776401728 0.00002
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser) rs766187198 0.00001
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser) rs1418248949 0.00001
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) rs1399123480 0.00001
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile) rs1447974524 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
NM_024422.6(DSC2):c.1556C>A (p.Thr519Asn)
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.193C>G (p.His65Asp) rs2144846957
NM_024422.6(DSC2):c.2092C>T (p.Leu698Phe) rs1555637561
NM_024422.6(DSC2):c.2237G>A (p.Gly746Glu)
NM_024422.6(DSC2):c.2285G>A (p.Gly762Asp)
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp) rs761544006
NM_024422.6(DSC2):c.2508+1G>A
NM_024422.6(DSC2):c.358C>A (p.Leu120Ile)

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.