List of variants reported as pathogenic for Leber congenital amaurosis by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_006915.3(RP2):c.486_490del (p.Gly163fs)	rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)	rs574936510
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_019098.5(CNGB3):c.991-3T>G	rs773372519

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.