ClinVar Miner

List of variants studied for perceptual disorders by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 260
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00043
NM_000539.3(RHO):c.439C>T (p.Arg147Cys) rs200165530 0.00040
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) rs142092713 0.00009
NM_000539.3(RHO):c.173C>T (p.Thr58Met) rs28933394 0.00008
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter) rs201186440 0.00008
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val) rs368141295 0.00006
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000539.3(RHO):c.361G>A (p.Gly121Ser) rs771637224 0.00003
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His) rs775810789 0.00003
NM_001379270.1(CNGA1):c.1535T>G (p.Met512Arg) rs761947277 0.00003
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) rs878853353 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_006017.3(PROM1):c.694+4A>T rs375952708 0.00002
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) rs138686895 0.00002
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000539.3(RHO):c.730C>T (p.Gln244Ter) rs1273934052 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001379270.1(CNGA1):c.629A>T (p.Asp210Val) rs775886085 0.00001
NM_002335.4(LRP5):c.121C>T (p.Arg41Trp) rs745454417 0.00001
NM_006017.3(PROM1):c.1141+1G>A rs878853401 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=) rs761899545 0.00001
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) rs878853357 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NC_000015.10:g.(?_31001061)_(31161273_?)del
NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter) rs878853342
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) rs878853376
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000283.4(PDE6B):c.1876G>T (p.Glu626Ter) rs758052437
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) rs104893778
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1040del (p.Pro347fs) rs2084801618
NM_000539.3(RHO):c.116T>G (p.Met39Arg) rs2084756915
NM_000539.3(RHO):c.165C>A (p.Asn55Lys) rs1312862210
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
NM_000539.3(RHO):c.211C>T (p.Pro71Ser) rs1305158106
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.341G>A (p.Gly114Asp) rs104893788
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
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.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.50C>A (p.Thr17Lys) rs104893769
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.527C>T (p.Ser176Phe) rs2084776365
NM_000539.3(RHO):c.532T>C (p.Tyr178His) rs2084785435
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.539C>T (p.Pro180Leu) rs2084785483
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu) rs2084785588
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000539.3(RHO):c.559T>C (p.Cys187Arg) rs2084785760
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) rs1578280588
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp) rs1578280614
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.66C>A (p.Ser22Arg) rs749567084
NM_000539.3(RHO):c.673C>T (p.Gln225Ter) rs752076372
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del) rs2084789093
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del) rs2084789357
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) rs29001653
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) rs2084793009
NM_000539.3(RHO):c.929del (p.Asn310fs) rs2084793386
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) rs2084800683
NM_000539.3(RHO):c.977del (p.Asn326fs) rs2084800900
NM_000554.6(CRX):c.100+1G>C rs878853384
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
NM_001034853.2(RPGR):c.1572+1del rs878853373
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter) rs869312185
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser) rs1582139965
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro) rs869312176
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del) rs2147917984
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del) rs2065661046
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) rs878853393
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) rs559591083
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del
NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser) rs878853359
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001354768.3(NRL):c.586_627dup (p.Ala196_Ala209dup) rs878853356
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) rs1570562309
NM_002335.4(LRP5):c.1034T>A (p.Leu345Gln) rs878853336
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) rs782469310
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) rs782215106
NM_002905.5(RDH5):c.536A>G (p.Lys179Arg) rs781112960
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
NM_004523.4(KIF11):c.478_479del (p.Leu160fs) rs1589591659
NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr) rs1572263404
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) rs878853351
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter) rs869312183
NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del
NM_006017.3(PROM1):c.1141+5G>C rs878853402
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1697del (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006017.3(PROM1):c.2309del (p.Pro770fs) rs878853400
NM_006017.3(PROM1):c.694+1G>A rs878853399
NM_006204.4(PDE6C):c.1892A>G (p.Glu631Gly) rs878853345
NM_006204.4(PDE6C):c.1894A>T (p.Arg632Trp) rs878853346
NM_006269.2(RP1):c.1462del (p.Glu488fs) rs878853327
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs) rs878853329
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.742C>T (p.Gln248Ter) rs769156393
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
NM_006343.2:c.-8163_c.1145-1213del
NM_006343.3(MERTK):c.1866G>C (p.Lys622Asn) rs775460185
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs) rs878853355
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) rs878853387
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) rs878853388
NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del) rs878853380
NM_006915.3(RP2):c.507del (p.Asn169fs) rs878853381
NM_012193.4(FZD4):c.961G>A (p.Val321Ile) rs878853344
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe) rs878853395
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) rs878853332
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) rs878853330
NM_015629.4(PRPF31):c.400del (p.Asp134fs) rs878853331
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) rs878853333
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) rs878853335
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) rs878853334
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) rs878853358
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup
NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) rs878853385
NM_018418.5(SPATA7):c.1241_1252del (p.Val414_Val417del) rs878853386
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter) rs878853391
NM_020366.4(RPGRIP1):c.2007del (p.Val670fs) rs878853390
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs) rs878853348
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033100.4(CDHR1):c.270dup (p.Thr91fs) rs878853347
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_152443.3(RDH12):c.383T>G (p.Val128Gly) rs878853340
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) rs878853379
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) rs878853365
NM_201253.3(CRB1):c.2843-1G>A rs878853368
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter) rs878853369
NM_201253.3(CRB1):c.807dup (p.Pro270fs) rs878853366
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.4251+1G>A rs878853405
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6326-1G>A rs878853411
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6470del (p.Arg2157fs) rs878853414

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