ClinVar Miner

List of variants reported as likely benign for cataract 13 with adult I phenotype

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) rs17637756 0.00101
NM_145649.5(GCNT2):c.1155C>T (p.Arg385=) rs370574556 0.00013
NM_001491.3(GCNT2):c.816C>T (p.Ala272=) rs773819612 0.00009
NM_001491.3(GCNT2):c.558C>T (p.Ile186=) rs763988372

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.