ClinVar Miner

List of variants reported as likely pathogenic for Primary open angle glaucoma

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) rs137854858
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) rs137854863
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860

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.