ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560
NM_016006.6(ABHD5):c.836del (p.Gln279fs)
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)

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.