ClinVar Miner

List of variants reported as pathogenic for Dejerine-Sottas disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_020956.2(PRX):c.*1217del rs1555801290
NM_020956.2(PRX):c.*3413C>T rs104894708

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.