ClinVar Miner

List of variants reported as likely pathogenic for retinal disorder by Moosajee Lab, UCL Institute of Ophthalmology

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2977-2del rs750373166 0.00001
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
NM_001029883.3(PCARE):c.3668+2T>C rs1667454188
NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter) rs1961919100
NM_021831.6(AGBL5):c.313_319del (p.Gly105fs) rs1668280406

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.