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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001297.5(CNGB1):c.2977-2del	rs750373166	0.00001
NM_000275.3(OCA2):c.890+1G>A	rs2042382744
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.