ClinVar Miner

List of variants reported as pathogenic for Fibrosis of extraocular muscles, congenital, 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
COL25A1, 12.4-KB DEL
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741

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.