ClinVar Miner

List of variants reported as pathogenic for retinitis pigmentosa by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) rs946898300 0.00018
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs) rs748758201 0.00011
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_025114.4(CEP290):c.6646-11T>G rs1431021703 0.00007
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000541.5(SAG):c.1103-2A>C rs748204331 0.00005
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly) rs371911345 0.00002
NM_000883.4(IMPDH1):c.255-2A>G rs1238921380 0.00002
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala) rs765792753 0.00002
NM_001379270.1(CNGA1):c.1142G>C (p.Gly381Ala) rs749990018 0.00002
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn) rs747578300 0.00002
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_001134831.2(AHI1):c.2988+6T>C rs751303913 0.00001
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) rs1231250334 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_006017.3(PROM1):c.2077-521A>G rs796051882 0.00001
NM_006269.2(RP1):c.615+1G>A rs886210482 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg) rs2054189787 0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_016247.4(IMPG2):c.501+5G>A rs1404077542 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_176824.3(BBS7):c.790G>A (p.Gly264Arg) rs932897330 0.00001
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp) rs764113446 0.00001
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) rs1660298900 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1401+2T>G rs1736426982
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His) rs1737229618
NM_000283.4(PDE6B):c.177_248dup (p.Leu60_Leu83dup) rs1734061767
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000322.5(PRPH2):c.461_464delinsTGGTCT (p.Lys154fs) rs1761908297
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000326.5(RLBP1):c.255_258dup (p.Arg87fs) rs2051588436
NM_000326.5(RLBP1):c.79del (p.Thr27fs) rs1567124404
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs) rs1661098509
NM_000350.3(ABCA4):c.2556del (p.Leu852fs) rs1660937747
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.4786dup (p.Arg1596fs) rs1659902823
NM_000350.3(ABCA4):c.4848+2T>A rs1659900155
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1359_1361delinsCC (p.Val454fs) rs1752838269
NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr) rs1581177868
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.1956_1957insTGACAGCATGAGCATGCCGT (p.Arg653Ter) rs1761073125
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) rs1161389116
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln) rs1754418004
NM_000440.3(PDE6A):c.743T>A (p.Val248Asp) rs1581209421
NM_000539.3(RHO):c.1032G>C (p.Gln344His) rs749753555
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) rs779169631
NM_000541.5(SAG):c.136+2T>G rs1233480483
NM_000541.5(SAG):c.806+4A>G rs749633616
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer) rs1784160131
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1754-15_1754-5del rs2067203546
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly) rs2067192032
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs) rs2067185063
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter) rs1601922877
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter) rs1555961787
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter) rs2067180233
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.2735del (p.Gly912fs) rs2067159265
NM_001034853.2(RPGR):c.2887del (p.Glu963fs) rs1064797364
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs) rs2067117666
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser) rs62638644
NM_001034853.2(RPGR):c.602A>T (p.His201Leu) rs2067845149
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter) rs2067562201
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr) rs2074970792
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2420del (p.Ser807fs) rs1768038999
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.67dup (p.Thr23fs) rs1766217655
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs) rs1554417054
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001242957.3(MAK):c.1632del (p.Cys545fs) rs1773160727
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) rs1420628245
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) rs1827340429
NM_001378454.1(ALMS1):c.547del (p.Glu183fs) rs1671239184
NM_001379270.1(CNGA1):c.1028G>C (p.Arg343Thr) rs752003888
NM_001379270.1(CNGA1):c.1093C>A (p.Pro365Thr) rs867483436
NM_001379270.1(CNGA1):c.1210_1214del (p.Ala404fs) rs1738719686
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_001563.4(IMPG1):c.1291+1G>T rs1433546528
NM_002602.4(PDE6G):c.206del (p.Pro69fs) rs1555692916
NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys) rs1836974640
NM_002900.3(RBP3):c.467G>C (p.Trp156Ser) rs1555210929
NM_003322.6(TULP1):c.1268T>C (p.Val423Ala) rs1554125521
NM_003322.6(TULP1):c.1523G>A (p.Arg508His) rs1768754157
NM_004698.4(PRPF3):c.1283-2A>G rs1572263399
NM_004698.4(PRPF3):c.1496A>C (p.His499Pro) rs1658062720
NM_004744.5(LRAT):c.487C>G (p.His163Asp) rs1010347467
NM_004928.3(CFAP410):c.335_346del (p.Leu112_Leu115del) rs769039082
NM_005802.5(TOPORS):c.3090dup (p.Thr1031fs) rs1257671376
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) rs1717541693
NM_006269.2(RP1):c.188T>C (p.Phe63Ser) rs369919266
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2113A>T (p.Lys705Ter) rs1806033844
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.4218_4221del (p.Glu1407fs) rs1806128576
NM_006343.3(MERTK):c.1689_1690+5delinsATATTA rs1676864299
NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr) rs1677512620
NM_006343.3(MERTK):c.844+2dup rs1553452169
NM_006343.3(MERTK):c.961-1G>T rs1676223605
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu) rs1360391558
NM_006445.4(PRPF8):c.6651-3C>A rs1467838102
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp) rs766407266
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006915.3(RP2):c.201_202del (p.Cys67_Glu68delinsTer) rs1924897691
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) rs1556318642
NM_006915.3(RP2):c.40del (p.Glu14fs) rs1924521431
NM_006915.3(RP2):c.529_533del (p.Phe177fs) rs1924907742
NM_006915.3(RP2):c.969+1dup rs1925391988
NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe) rs771467567
NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp) rs1004264460
NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser) rs1295558388
NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val) rs1574001405
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln) rs2054205040
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015629.4(PRPF31):c.1067_1073+8del rs2073964950
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094
NM_015629.4(PRPF31):c.1118_1127del (p.Lys373fs) rs2073970897
NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter) rs2073971805
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His) rs1600360827
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs) rs2073704298
NM_015629.4(PRPF31):c.178-2A>G rs2073708638
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) rs2073818085
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) rs1555792445
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter) rs1411470197
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) rs2073701678
NM_015629.4(PRPF31):c.953_959del (p.Gly317_Tyr318insTer) rs2073962058
NM_015629.4(PRPF31):c.954_955dup (p.Glu319fs) rs2073962186
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs) rs2073702243
NM_016247.4(IMPG2):c.1045del (p.Tyr349fs) rs1706625164
NM_016247.4(IMPG2):c.188_191del (p.Lys63fs) rs2058802102
NM_016247.4(IMPG2):c.533+4_533+7del rs1707008452
NM_016247.4(IMPG2):c.634del (p.Ser212fs) rs1706833794
NM_016247.4(IMPG2):c.666+5G>A rs775105637
NM_018474.6(KIZ):c.251_258del (p.Phe84fs) rs1254494198
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_022367.4(SEMA4A):c.745dup (p.Glu249fs) rs1653548589
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.41C>G (p.Ala14Gly) rs774110999
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.2682dup (p.Ser895fs) rs1555216730
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs) rs2037140260
NM_025114.4(CEP290):c.4029+1G>A rs2036808766
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_031885.5(BBS2):c.413T>G (p.Ile138Ser) rs1386789664
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_152443.3(RDH12):c.599A>C (p.Tyr200Ser) rs1163040913
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter) rs777019428
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982
NM_172240.3(POC1B):c.560+2T>G rs1882924778
NM_172364.5(CACNA2D4):c.1589_1593del (p.Val530fs) rs772592088
NM_201253.3(CRB1):c.1171+2T>G rs1660519681
NM_201253.3(CRB1):c.1483del (p.Trp495fs) rs1664301074
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro) rs1553262957
NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser) rs771257822
NM_201253.3(CRB1):c.733del (p.Ala245fs) rs1659645978
NM_201253.3(CRB1):c.803_806del (p.Ser268fs) rs1659651471
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_201548.5(CERKL):c.541_542delinsTT (p.Glu181Leu) rs1689012192
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) rs1657992030
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu) rs755099565
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer) rs1656646424
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) rs2036149054
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs) rs2039692173
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr) rs1421761057
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu) rs1667316070
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter) rs1664490756
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801

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