ClinVar Miner

List of variants in gene RPE65 studied for Leber congenital amaurosis 2

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Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.644-33C>G rs1925955 0.54169
NM_000329.3(RPE65):c.*915C>G rs3118416 0.42177
NM_000329.3(RPE65):c.*611G>A rs2182315 0.42147
NM_000329.3(RPE65):c.*531A>G rs3118418 0.18178
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_000329.3(RPE65):c.643+22C>T rs2274321 0.03055
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000329.3(RPE65):c.*680G>A rs56113622 0.00888
NM_000329.3(RPE65):c.*341T>C rs74084042 0.00885
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_000329.3(RPE65):c.*339A>G rs74084043 0.00496
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000329.3(RPE65):c.*192A>G rs142768806 0.00291
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000329.3(RPE65):c.*511G>A rs149449684 0.00214
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000329.3(RPE65):c.*588C>A rs541546843 0.00048
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166 0.00034
NM_000329.3(RPE65):c.*886T>C rs111811751 0.00019
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.441A>G (p.Thr147=) rs185049543 0.00012
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000329.3(RPE65):c.859-11C>T rs369772824 0.00010
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) rs187198628 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000329.3(RPE65):c.95-10T>A rs547374432 0.00007
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000329.3(RPE65):c.*517G>A rs574708413 0.00004
NM_000329.3(RPE65):c.1129-5C>T rs368533067 0.00004
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.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512 0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1338+8A>G rs777211540 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000329.3(RPE65):c.*560C>T rs1045301005 0.00002
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.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000329.3(RPE65):c.807T>C (p.Ser269=) rs774896870 0.00002
NM_000329.3(RPE65):c.*546A>C rs1462746486 0.00001
NM_000329.3(RPE65):c.*554C>T rs1645802843 0.00001
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.1223T>C (p.Leu408Pro) rs62636298 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.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile) rs1260914084 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 0.00001
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946 0.00001
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp) rs1645927491 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 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.547A>G (p.Ile183Val) rs1010958875 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.576T>A (p.Ile192=) rs747122876 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) rs577193739 0.00001
NM_000329.3(RPE65):c.725+2T>A rs1355979496 0.00001
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184 0.00001
NM_000329.3(RPE65):c.858+6T>C rs764221382 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) rs1261473838 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.975T>G (p.Ile325Met) rs761227832 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.*128G>A rs1385513974
NM_000329.3(RPE65):c.*424C>A rs1645803830
NM_000329.3(RPE65):c.*630C>T rs1645802157
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*946C>T rs1645800007
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
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.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser) rs774130993
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.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) 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.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1339-1G>C
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.1451-2del rs2100805351
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
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.186_191del (p.Asp62_Gln64delinsGlu) rs1645945582
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg) rs1645945643
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.202C>T (p.His68Tyr) rs61752866
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) rs61752875
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.332C>A (p.Pro111His) rs2100828238
NM_000329.3(RPE65):c.353+1G>A
NM_000329.3(RPE65):c.354-2A>G
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser) rs1015895028
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.366C>T (p.Tyr122=) rs1479443954
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
NM_000329.3(RPE65):c.395C>T (p.Ala132Val) rs1276965909
NM_000329.3(RPE65):c.407T>G (p.Val136Gly) rs1645928251
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
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.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.549del (p.Ile183fs)
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.643+2T>A rs1645896934
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.644-2A>T rs61752891
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
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.718G>A (p.Val240Ile) rs192907397
NM_000329.3(RPE65):c.725+1G>A rs1260969698
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.770T>G (p.Val257Gly) rs1645883131
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) rs2100819151
NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
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.858+1dup
NM_000329.3(RPE65):c.859-1G>A
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.859del rs2100818777
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
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.90delinsGAGCTC (p.Thr31fs)
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter) rs2100818575
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) rs1645880293
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu) rs1645880232
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.989G>A (p.Cys330Tyr) rs61752908
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]

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