ClinVar Miner

List of variants studied for Leber congenital amaurosis by Human Genetics - Radboudumc,Radboudumc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) rs1012947103

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.