ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 1 by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
GUCY2D, 1-BP DEL, 2943G
GUCY2D, 1-BP DEL, 460C
GUCY2D, 1-BP DEL, 693C
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755

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.