ClinVar Miner

List of variants in gene RPE65 studied for not provided

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Gene type:
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Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.998+207T>C rs3118421 0.96692
NM_000329.3(RPE65):c.644-33C>G rs1925955 0.54169
NM_000329.3(RPE65):c.999-267A>G rs3125902 0.53829
NM_000329.3(RPE65):c.998+270C>A rs3118420 0.42212
NM_000329.3(RPE65):c.95-212A>G rs2012235 0.42043
NM_000329.3(RPE65):c.1450+104C>T rs932783 0.41964
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000329.3(RPE65):c.998+112T>C rs12138573 0.15886
NM_000329.3(RPE65):c.11+99T>A rs3125907 0.10865
NM_000329.3(RPE65):c.12-281T>C rs2277874 0.06010
NM_000329.3(RPE65):c.245+284T>G rs2148138 0.04609
NM_000329.3(RPE65):c.246-46G>A rs3790471 0.03558
NM_000329.3(RPE65):c.1339-39T>C rs13375676 0.03084
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.245+243C>T rs11209301 0.01817
NM_000329.3(RPE65):c.1243+29G>A rs116540274 0.01138
NM_000329.3(RPE65):c.1128+2585A>C rs1555847 0.00955
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
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.48T>C (p.Phe16=) rs62642581 0.00059
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000329.3(RPE65):c.644-42del rs61752893 0.00039
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166 0.00034
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489 0.00016
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.433G>A (p.Ala145Thr) rs767528365 0.00012
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.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000329.3(RPE65):c.95-10T>A rs547374432 0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870 0.00005
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291 0.00004
NM_000329.3(RPE65):c.268G>A (p.Val90Ile) rs370076628 0.00004
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser) rs891340302 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.94+10G>A rs777879312 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.331C>T (p.Pro111Ser) rs886042220 0.00003
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046 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.1178C>A (p.Ala393Glu) rs62635773 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) rs749242996 0.00001
NM_000329.3(RPE65):c.1485A>C (p.Ala495=) rs753956649 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 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.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys) rs761284021 0.00001
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) rs761471961 0.00001
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly) rs61752910
NM_000329.3(RPE65):c.1053A>G (p.Glu351=) rs62642585
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del) rs61751280
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr) rs62646883
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.11+34T>A rs61751275
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) rs62653012
NM_000329.3(RPE65):c.1120del (p.Ile374fs) rs62653013
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly) rs62635773
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro) rs62636296
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.12G>T (p.Gln4His) rs1645960147
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys) rs62636302
NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg) rs2100807345
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) rs62637002
NM_000329.3(RPE65):c.1322A>G (p.His441Arg) rs1645824226
NM_000329.3(RPE65):c.1339-3C>G
NM_000329.3(RPE65):c.1350G>T (p.Leu450=) rs62637003
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn) rs62637005
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.138del (p.Pro47fs) rs61752865
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.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1441G>A (p.Glu481Lys) rs768710948
NM_000329.3(RPE65):c.1451-22C>T rs281865290
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer) rs886042807
NM_000329.3(RPE65):c.1562A>T (p.Asn521Ile)
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.202C>T (p.His68Tyr) rs61752866
NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly) rs281865287
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser) rs1645945363
NM_000329.3(RPE65):c.231C>A (p.Val77=) rs61752868
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn) rs1645931073
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs) rs61752872
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln) rs61752874
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) rs61752875
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
NM_000329.3(RPE65):c.353+1G>T rs61752876
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.495+1dup rs281865288
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.570C>T (p.Tyr190=) rs61752885
NM_000329.3(RPE65):c.57_58del (p.Glu20fs) rs62642582
NM_000329.3(RPE65):c.609C>T (p.Ala203=) rs61752886
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.643+1G>C rs61752889
NM_000329.3(RPE65):c.643+5G>A rs61752890
NM_000329.3(RPE65):c.644-1G>T rs61752892
NM_000329.3(RPE65):c.644-2A>T rs61752891
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly) rs62646881
NM_000329.3(RPE65):c.675C>A (p.Ile225=) rs114379164
NM_000329.3(RPE65):c.725+4A>G rs61752897
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.778_785del (p.Asn260fs) rs63749059
NM_000329.3(RPE65):c.793C>T (p.Leu265Phe) rs1457086571
NM_000329.3(RPE65):c.80C>T (p.Thr27Ile) rs794727245
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.858+4A>G rs61752900
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.886dup (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.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp) rs2100818454
NM_000329.3(RPE65):c.95G>T (p.Gly32Val) rs61751278
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908

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