ClinVar Miner

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

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Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu) rs142626873 0.00013
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.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000329.3(RPE65):c.676G>A (p.Val226Ile) rs750099371 0.00007
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys) rs144673747 0.00006
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870 0.00005
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe) rs371586530 0.00004
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161 0.00004
NM_000329.3(RPE65):c.1449T>C (p.Asp483=) rs201116540 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.637C>A (p.Gln213Lys) rs777966849 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000329.3(RPE65):c.1198A>T (p.Thr400Ser) rs1645826225 0.00003
NM_000329.3(RPE65):c.1366G>C (p.Glu456Gln) rs755805126 0.00003
NM_000329.3(RPE65):c.1387C>A (p.Pro463Thr) rs375358477 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser) rs771863086 0.00003
NM_000329.3(RPE65):c.842C>G (p.Ser281Cys) rs753656894 0.00003
NM_000329.3(RPE65):c.1339-4A>G rs746665921 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 0.00002
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser) rs769440649 0.00001
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly) rs749942889 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu) rs199613555 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.1334A>G (p.Asp445Gly) rs1645824155 0.00001
NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg) rs1468393625 0.00001
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser) rs767931252 0.00001
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) rs190761343 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 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.494A>T (p.Gln165Leu) rs745338004 0.00001
NM_000329.3(RPE65):c.547A>G (p.Ile183Val) rs1010958875 0.00001
NM_000329.3(RPE65):c.563C>T (p.Thr188Ile) rs1196428445 0.00001
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887 0.00001
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) rs577193739 0.00001
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser) rs758264644 0.00001
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys) rs1343005273 0.00001
NM_000329.3(RPE65):c.7A>G (p.Ile3Val) rs777461552 0.00001
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr) rs377762154 0.00001
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn) rs756160706 0.00001
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) rs1261473838 0.00001
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys) rs761284021 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NC_000001.10:g.(?_68895459)_(68915588_?)dup
NC_000001.10:g.(?_68914307)_(68919076_?)dup
NM_000329.3(RPE65):c.1003G>C (p.Glu335Gln)
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys) rs1645875407
NM_000329.3(RPE65):c.1015A>G (p.Asn339Asp)
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe) rs2100817108
NM_000329.3(RPE65):c.1040G>T (p.Arg347Leu) rs562037932
NM_000329.3(RPE65):c.1058T>G (p.Val353Gly) rs2100817038
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
NM_000329.3(RPE65):c.1067A>G (p.Asn356Ser)
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr) rs62646883
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser) rs764589805
NM_000329.3(RPE65):c.11+4_11+7del
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser)
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser) rs1645874179
NM_000329.3(RPE65):c.1123G>A (p.Asp375Asn) rs1645874113
NM_000329.3(RPE65):c.1123G>C (p.Asp375His) rs1645874113
NM_000329.3(RPE65):c.1147T>A (p.Leu383Ile)
NM_000329.3(RPE65):c.1148T>C (p.Leu383Ser)
NM_000329.3(RPE65):c.1149A>T (p.Leu383Phe)
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe) rs1645826797
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile) rs1645826475
NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
NM_000329.3(RPE65):c.1201_1203dup (p.Ile401dup) rs2100807868
NM_000329.3(RPE65):c.1204T>C (p.Trp402Arg)
NM_000329.3(RPE65):c.1213C>A (p.Pro405Thr)
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
NM_000329.3(RPE65):c.1234C>T (p.Pro412Ser)
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
NM_000329.3(RPE65):c.1288C>T (p.Pro430Ser)
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
NM_000329.3(RPE65):c.1294A>C (p.Thr432Pro) rs1645824500
NM_000329.3(RPE65):c.1294A>T (p.Thr432Ser) rs1645824500
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys) rs147206805
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu) rs62637002
NM_000329.3(RPE65):c.131G>T (p.Arg44Leu) rs61751282
NM_000329.3(RPE65):c.1322A>G (p.His441Arg) rs1645824226
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1338+3A>T rs1645824066
NM_000329.3(RPE65):c.1339-3C>G
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys) rs1645823028
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr) rs2100806926
NM_000329.3(RPE65):c.1409C>A (p.Pro470His) rs774211361
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
NM_000329.3(RPE65):c.1424A>C (p.His475Pro) rs2100806867
NM_000329.3(RPE65):c.1429G>C (p.Asp477His) rs2100806843
NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr) rs2100806829
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1444G>T (p.Asp482Tyr) rs2100806802
NM_000329.3(RPE65):c.1450+3A>G
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe) rs2100805317
NM_000329.3(RPE65):c.1484C>G (p.Ala495Gly)
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.1520C>G (p.Ala507Gly)
NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn) rs1645807408
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
NM_000329.3(RPE65):c.1553T>G (p.Val518Gly)
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys) rs373274945
NM_000329.3(RPE65):c.1579C>T (p.His527Tyr)
NM_000329.3(RPE65):c.1580A>G (p.His527Arg) rs1194458561
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg) rs150832066
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
NM_000329.3(RPE65):c.158G>T (p.Gly53Val) rs763536294
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu) rs2100831318
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys) rs2100831197
NM_000329.3(RPE65):c.220G>C (p.Glu74Gln) rs2100831197
NM_000329.3(RPE65):c.221A>G (p.Glu74Gly) rs2100831191
NM_000329.3(RPE65):c.227A>G (p.His76Arg) rs1571172233
NM_000329.3(RPE65):c.246-10T>C
NM_000329.3(RPE65):c.256A>G (p.Thr86Ala) rs2100828493
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn) rs1645931073
NM_000329.3(RPE65):c.260A>G (p.Asp87Gly) rs1645931040
NM_000329.3(RPE65):c.280A>G (p.Thr94Ala) rs1645930710
NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)
NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr) rs1645930635
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser) rs1645930469
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
NM_000329.3(RPE65):c.353+4A>T rs1299116346
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
NM_000329.3(RPE65):c.386C>T (p.Thr129Ile) rs768336015
NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
NM_000329.3(RPE65):c.400_402del (p.Val134del) rs1170746947
NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
NM_000329.3(RPE65):c.406G>T (p.Val136Phe)
NM_000329.3(RPE65):c.415G>A (p.Val139Met)
NM_000329.3(RPE65):c.421G>A (p.Glu141Lys)
NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_000329.3(RPE65):c.485C>T (p.Thr162Ile) rs1360779220
NM_000329.3(RPE65):c.497T>C (p.Val166Ala) rs2100821973
NM_000329.3(RPE65):c.499G>A (p.Asp167Asn)
NM_000329.3(RPE65):c.503T>G (p.Leu168Arg)
NM_000329.3(RPE65):c.535G>A (p.Ala179Thr) rs1645898290
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.53C>G (p.Thr18Ser) rs1645959906
NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.56T>A (p.Val19Glu) rs1645959875
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys) rs755545288
NM_000329.3(RPE65):c.595A>G (p.Asn199Asp)
NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
NM_000329.3(RPE65):c.598T>G (p.Phe200Val) rs1406145019
NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
NM_000329.3(RPE65):c.624G>T (p.Lys208Asn) rs1170839612
NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
NM_000329.3(RPE65):c.629C>G (p.Pro210Arg) rs757538512
NM_000329.3(RPE65):c.638A>C (p.Gln213Pro) rs1224080719
NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
NM_000329.3(RPE65):c.643+3G>A rs1277690393
NM_000329.3(RPE65):c.648G>A (p.Lys216=)
NM_000329.3(RPE65):c.650A>T (p.Glu217Val) rs777646597
NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
NM_000329.3(RPE65):c.687C>A (p.Phe229Leu)
NM_000329.3(RPE65):c.718G>A (p.Val240Ile) rs192907397
NM_000329.3(RPE65):c.71C>T (p.Ser24Leu)
NM_000329.3(RPE65):c.725+5C>T rs923933222
NM_000329.3(RPE65):c.725+6T>C rs2100819643
NM_000329.3(RPE65):c.726-3C>A
NM_000329.3(RPE65):c.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys) rs2100834242
NM_000329.3(RPE65):c.731G>A (p.Gly244Asp) rs2100819283
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) rs1325815513
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
NM_000329.3(RPE65):c.802T>A (p.Trp268Arg)
NM_000329.3(RPE65):c.814G>A (p.Gly272Arg)
NM_000329.3(RPE65):c.815G>A (p.Gly272Glu)
NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
NM_000329.3(RPE65):c.826A>G (p.Met276Val)
NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
NM_000329.3(RPE65):c.854T>G (p.Met285Arg)
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
NM_000329.3(RPE65):c.886A>T (p.Arg296Trp)
NM_000329.3(RPE65):c.896A>G (p.Tyr299Cys)
NM_000329.3(RPE65):c.902A>C (p.Asn301Thr)
NM_000329.3(RPE65):c.904A>G (p.Asn302Asp)
NM_000329.3(RPE65):c.922C>T (p.Pro308Ser)
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp) rs2100818454
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.998G>A (p.Gly333Glu) rs1173207597
NM_000329.3(RPE65):c.999-3C>G rs2100817189

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