ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome by Counsyl

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963

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.