ClinVar Miner

List of variants in gene EYS reported as pathogenic by NIHR Bioresource Rare Diseases,University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.2(EYS):c.5928-2A>G rs181169439
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575

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.