ClinVar Miner

List of variants studied for perceptual disorders by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp) rs113358395 0.00351
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_002905.5(RDH5):c.839G>A (p.Arg280His) rs62638193 0.00011
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) rs369205319 0.00011
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter) rs1239854361 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_015072.5(TTLL5):c.1534C>T (p.Arg512Cys) rs746661330 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter) rs139027297 0.00003
NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln) rs139108078 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_006269.2(RP1):c.1986del (p.Lys663fs) rs754246929 0.00002
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) rs1737315492 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 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_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu) rs1553187939 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001297.5(CNGB1):c.1122-9G>A rs750225817 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006269.2(RP1):c.615+1G>A rs886210482 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) rs539189291 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_000180.4(GUCY2D):c.1573del (p.Gln525fs)
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2T>C (p.Met1Thr)
NM_000180.4(GUCY2D):c.71del (p.Pro24fs)
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000260.4(MYO7A):c.1938del (p.Phe647fs)
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.5566_5577del (p.Arg1856_Gln1859del)
NM_000266.4(NDP):c.384C>G (p.Cys128Trp)
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile) rs747684283
NM_000283.4(PDE6B):c.1921-20_1921-3del
NM_000283.4(PDE6B):c.2170A>C (p.Lys724Gln)
NM_000283.4(PDE6B):c.427del (p.Ala143fs)
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.550G>T (p.Glu184Ter)
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.3(ABCA4):c.3965del (p.Pro1322fs)
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val) rs2101034896
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter) rs1282472315
NM_000350.3(ABCA4):c.4849-2A>G rs1659893796
NM_000350.3(ABCA4):c.4924_4927del (p.Ser1642fs)
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6479+1G>A
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.699_768+341del rs1662191792
NM_000390.4(CHM):c.1168_1244+1del
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000440.3(PDE6A):c.1444T>C (p.Cys482Arg)
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del) rs2084789093
NM_000843.4(GRM6):c.1501-1G>T
NM_001017979.3(RAB28):c.299G>A (p.Ser100Asn) rs1715552187
NM_001017979.3(RAB28):c.430C>T (p.His144Tyr)
NM_001029883.3(PCARE):c.3668+2T>C rs1667454188
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)
NM_001122769.3(LCA5):c.1261C>T (p.Gln421Ter)
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
NM_001142800.2(EYS):c.5918dup (p.Leu1974fs)
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
NM_001142800.2(EYS):c.8050A>C (p.Thr2684Pro)
NM_001142800.2:c.2024-5718_2260-10064del
NM_001142800.2:c.6425-7585_7056-7439dup
NM_001166114.2(PNPLA6):c.3488G>T (p.Ser1163Ile)
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
NM_001201543.2(FAM161A):c.1440del (p.Glu481fs)
NM_001201543.2(FAM161A):c.690del (p.Glu231fs)
NM_001256789.3(CACNA1F):c.2953del (p.Ala985fs)
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001278293.3(ARL6):c.387_394del (p.Asn130fs)
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) rs774264204
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
NM_001297.5(CNGB1):c.2804_2817del (p.Glu935fs)
NM_001297.5:c.1536-3071_2634+31dup
NM_001298.3(CNGA3):c.1073G>C (p.Trp358Ser)
NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)
NM_001298.3(CNGA3):c.910G>C (p.Gly304Arg)
NM_001349884.2(DRAM2):c.517+5C>A
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)
NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu) rs750180668
NM_001378477.3(NYX):c.22+5G>T
NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)
NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His)
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe) rs1051579797
NM_002335.4(LRP5):c.629A>G (p.Tyr210Cys)
NM_002929.3(GRK1):c.142_145del (p.Glu48fs) rs748680704
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_003043.6(SLC6A6):c.746C>T (p.Thr249Ile)
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) rs1799652893
NM_003322.6(TULP1):c.1138A>G (p.Thr380Ala)
NM_003322.6(TULP1):c.1495+5G>A
NM_003322.6(TULP1):c.1561C>T (p.Pro521Ser)
NM_003322.6(TULP1):c.415dup (p.Ile139fs)
NM_003322.6(TULP1):c.822G>C (p.Lys274Asn)
NM_003322.6(TULP1):c.999+5G>A rs2150925392
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1406_1407insT (p.Thr470fs)
NM_006017.3(PROM1):c.1649C>G (p.Ser550Ter)
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter)
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006204.4(PDE6C):c.1295C>T (p.Ser432Phe)
NM_006204.4(PDE6C):c.2361_2363dup (p.Tyr788Ter)
NM_006204.4(PDE6C):c.633G>A (p.Glu211=)
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006269.2(RP1):c.4555del (p.Arg1519fs) rs794727640
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.4743dup (p.Cys1582fs) rs886041040
NM_006269.2(RP1):c.711C>G (p.Tyr237Ter)
NM_006269.2:c.-12-1431_*285del
NM_006343.3(MERTK):c.1237del (p.Gln413fs)
NM_006343.3(MERTK):c.1787-2A>G
NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
NM_006343.3(MERTK):c.444dup (p.Pro149fs)
NM_006343.3(MERTK):c.601_609del (p.Lys201_Pro203del)
NM_006343.3(MERTK):c.985A>G (p.Asn329Asp)
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006493.4(CLN5):c.288del (p.Leu97fs)
NM_006642.5(SDCCAG8):c.1817_1818dup (p.Ala607Ter)
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006915.3(RP2):c.225del (p.Phe75fs)
NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)
NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)
NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)
NM_014053.4(FLVCR1):c.1198C>T (p.Gln400Ter) rs1315527384
NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.735_737dup (p.Tyr246Ter)
NM_015072.5(TTLL5):c.1586_1589del (p.Glu529fs) rs587777469
NM_015072.5(TTLL5):c.2412_2420delinsAATTTTTT (p.Thr805fs)
NM_015072.5(TTLL5):c.3744dup (p.Ser1249fs) rs753057666
NM_015072.5(TTLL5):c.741-1G>A rs1887576038
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.322+5G>A
NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys)
NM_016247.4(IMPG2):c.3490G>T (p.Glu1164Ter)
NM_017739.4(POMGNT1):c.359T>C (p.Leu120Pro)
NM_018418.5(SPATA7):c.1028G>A (p.Arg343Lys)
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer)
NM_020184.4(CNNM4):c.2147A>G (p.Tyr716Cys)
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_021831.6(AGBL5):c.577C>T (p.Arg193Trp)
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_024876.4(COQ8B):c.1156G>A (p.Asp386Asn)
NM_024876.4(COQ8B):c.1324G>A (p.Val442Met)
NM_024876.4(COQ8B):c.566G>A (p.Trp189Ter)
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_032119.4(ADGRV1):c.10910del (p.Asn3637fs)
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
NM_133497.4(KCNV2):c.190G>T (p.Glu64Ter)
NM_144499.3(GNAT1):c.1053A>G (p.Ter351Trp)
NM_144596.4(TTC8):c.115-2A>G rs587777809
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.433G>A (p.Gly145Arg)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_172240.3(POC1B):c.611C>T (p.Ala204Val)
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
NM_177965.4(CFAP418):c.374+1G>A
NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro)
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.255T>A (p.Cys85Ter)
NM_201253.3(CRB1):c.266del (p.Pro89fs)
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs) rs1026405158
NM_201548.5(CERKL):c.196C>T (p.Arg66Ter)
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021

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