ClinVar Miner

List of variants in gene RPE65 reported as pathogenic for Leber congenital amaurosis 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
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.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) rs1395763356 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 0.00001
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter) rs1202384396 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.725+2T>A rs1355979496 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) rs761471961 0.00001
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) rs1645879569 0.00001
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.2:c.1_1602del
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) rs1645826120
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451-2del rs2100805351
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) rs2100804954
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.1596dup (p.Ser533fs) rs1645806893
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter) rs1645945599
NM_000329.3(RPE65):c.190del (p.Gln64fs)
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) rs1344724754
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.354-2A>G
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
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.46_49del (p.Phe16fs) rs866809120
NM_000329.3(RPE65):c.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.644-2A>T rs61752891
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter) rs2100819756
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) rs1645885900
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) rs2100819151
NM_000329.3(RPE65):c.843_858+7del rs1645882103
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.859del rs2100818777
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.894del (p.Lys298fs) rs61752903
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
NM_000329.3(RPE65):c.93A>G (p.Thr31=) rs2100834154
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.998+1G>A rs1645879495
NM_000329.3(RPE65):c.999-1G>T
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]

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.