ClinVar Miner

List of variants reported as uncertain significance for congenital vitreoretinal dysplasia by Mendelics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) rs398124264
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822

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.