ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 2 by Laboratory of Genetics in Ophthalmology, Institut Imagine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) rs1645879569 0.00001
NM_000329.2:c.1_1602del
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) rs1645826120
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.1596dup (p.Ser533fs) rs1645806893
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter) rs1645945599
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.444_445del (p.Glu148fs) rs1645927790
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) rs1645885900
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.843_858+7del rs1645882103
NM_000329.3(RPE65):c.858+1G>A rs61752899

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.