ClinVar Miner

List of variants in gene RPE65 reported as benign for Leber congenital amaurosis 2; Retinitis pigmentosa 20

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1244-5C>T rs202185816
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907

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.