ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 2; Retinitis pigmentosa 20

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.95-2A>T rs61751279

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.