ClinVar Miner

List of variants reported for Developmental and epileptic encephalopathy, 28 by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NC_000016.10:g.78152047_78188346del
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
Single allele

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.