List of variants in gene CRB1 reported as likely pathogenic for Leber congenital amaurosis

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
NM_201253.3(CRB1):c.2220dup (p.Met741fs)	rs1553261468
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)	rs62636271
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752

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.