ClinVar Miner

List of variants reported as pathogenic for diffuse palmoplantar keratoderma by Department of Prosthodontics, Peking University School and Hospital of Stomatology

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter) rs1553623389
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) rs1011303295
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs) rs1553623281
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266

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.