ClinVar Miner

List of variants in gene OTOGL reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 428
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.1890-57G>A rs10778721 0.99638
NM_001378609.3(OTOGL):c.1160-57A>T rs2100258 0.99636
NM_001378609.3(OTOGL):c.1441+49C>T rs7295623 0.99278
NM_001378609.3(OTOGL):c.2929-151G>A rs1470730 0.99118
NM_001378609.3(OTOGL):c.3635-288G>A rs7975798 0.96381
NM_001378609.3(OTOGL):c.3729G>A (p.Pro1243=) rs10778725 0.96377
NM_001378609.3(OTOGL):c.6456G>A (p.Thr2152=) rs2717482 0.94876
NM_001378609.3(OTOGL):c.6247A>G (p.Ile2083Val) rs2034528 0.94158
NM_001378609.3(OTOGL):c.5545A>G (p.Ile1849Val) rs7297767 0.83814
NM_001378609.3(OTOGL):c.5594-124A>T rs6539501 0.83675
NM_001378609.3(OTOGL):c.2390+103T>C rs7313132 0.77988
NM_001378609.3(OTOGL):c.1286-91A>G rs10862083 0.72096
NM_001378609.3(OTOGL):c.2519-31A>G rs4483657 0.71868
NM_001378609.3(OTOGL):c.7047G>A (p.Thr2349=) rs2717477 0.70953
NM_001378609.3(OTOGL):c.6616-145_6616-144del rs34672210 0.70876
NM_001378609.3(OTOGL):c.6735+187G>A rs1451103 0.70561
NM_001378609.3(OTOGL):c.6421G>A (p.Ala2141Thr) rs1551118 0.70559
NM_001378609.3(OTOGL):c.6615+157G>A rs10778730 0.70529
NM_001378609.3(OTOGL):c.6736-113_6736-112del rs201680829 0.70525
NM_001378609.3(OTOGL):c.6781+101G>A rs10778734 0.70512
NM_001378609.3(OTOGL):c.6736-115del rs779681456 0.70502
NM_001378609.3(OTOGL):c.6782-139A>G rs10862101 0.70200
NM_001378609.3(OTOGL):c.2789+9A>G rs1376384 0.63172
NM_001378609.3(OTOGL):c.2465+82T>A rs11114377 0.60985
NM_001378609.3(OTOGL):c.2929-268G>A rs1470731 0.54757
NM_001378609.3(OTOGL):c.3451-103C>T rs1037335 0.54385
NM_001378609.3(OTOGL):c.3063+217T>C rs10862088 0.53363
NM_001378609.3(OTOGL):c.5094T>C (p.Asn1698=) rs10778727 0.51063
NM_001378609.3(OTOGL):c.4768-28G>A rs10862093 0.50006
NM_001378609.3(OTOGL):c.6781+89C>G rs10862100 0.49908
NM_001378609.3(OTOGL):c.6737A>G (p.Asn2246Ser) rs1551122 0.49218
NM_001378609.3(OTOGL):c.79+116A>T rs4842344 0.39659
NM_001378609.3(OTOGL):c.489+230A>G rs60803282 0.35191
NM_001378609.3(OTOGL):c.1053-230A>G rs7135708 0.34668
NM_001378609.3(OTOGL):c.5051-233A>C rs11114410 0.32657
NM_001378609.3(OTOGL):c.3063+131C>T rs12370762 0.27901
NM_001378609.3(OTOGL):c.6331+153A>G rs2895790 0.23454
NM_001378609.3(OTOGL):c.3451-20T>A rs11114396 0.19252
NM_001378609.3(OTOGL):c.6735+105C>T rs10862099 0.18969
NM_001378609.3(OTOGL):c.4860+276T>A rs11114408 0.18673
NM_001378609.3(OTOGL):c.6862-293A>G rs12579380 0.18553
NM_001378609.3(OTOGL):c.5512C>G (p.Leu1838Val) rs7312569 0.18453
NM_001378609.3(OTOGL):c.6402G>T (p.Leu2134Phe) rs11114416 0.18446
NM_001378609.3(OTOGL):c.5984G>A (p.Arg1995Gln) rs11836060 0.18436
NM_001378609.3(OTOGL):c.4199+306T>C rs11114402 0.17016
NM_001378609.3(OTOGL):c.1587+39A>C rs11114374 0.15768
NM_001378609.3(OTOGL):c.3451-46A>T rs56658695 0.14986
NM_001378609.3(OTOGL):c.4349-77A>C rs1451101 0.14525
NM_001378609.3(OTOGL):c.5806+206A>G rs17006654 0.13198
NM_001378609.3(OTOGL):c.4422+222A>G rs11114405 0.13056
NM_001378609.3(OTOGL):c.6019+200A>G rs7957716 0.12887
NM_001378609.3(OTOGL):c.4200-42A>T rs12825060 0.12867
NM_001378609.3(OTOGL):c.2465+80A>T rs9783515 0.11149
NM_001378609.3(OTOGL):c.6781+301C>T rs12296609 0.10953
NM_001378609.3(OTOGL):c.1588-128C>G rs17307832 0.10664
NM_001378609.3(OTOGL):c.1394+261C>A rs11114373 0.10260
NM_001378609.3(OTOGL):c.5408-219C>A rs11611596 0.10246
NM_001378609.3(OTOGL):c.489+263G>A rs73356998 0.09936
NM_001378609.3(OTOGL):c.3450+199A>G rs11114394 0.09841
NM_001378609.3(OTOGL):c.2682-114C>T rs11114382 0.09614
NM_001378609.3(OTOGL):c.4744-111G>A rs73137398 0.09240
NM_001378609.3(OTOGL):c.2929-182C>A rs17006602 0.08491
NM_001378609.3(OTOGL):c.3333G>T (p.Gln1111His) rs10862089 0.07827
NM_001378609.3(OTOGL):c.6511-25G>A rs73141140 0.07654
NM_001378609.3(OTOGL):c.3480T>C (p.Cys1160=) rs12316424 0.07517
NM_001378609.3(OTOGL):c.2518+18G>A rs11114378 0.07364
NM_001378609.3(OTOGL):c.3064-495T>C rs7972481 0.07211
NM_001378609.3(OTOGL):c.2466-57G>A rs367961067 0.06971
NM_001378609.3(OTOGL):c.2466-44A>C rs201335759 0.06493
NM_001378609.3(OTOGL):c.2391-6G>A rs9783425 0.05927
NM_001378609.3(OTOGL):c.4860+256A>G rs11114407 0.05699
NM_001378609.3(OTOGL):c.3635-229T>C rs11114400 0.05483
NM_001378609.3(OTOGL):c.235+277C>T rs7310166 0.05474
NM_001378609.3(OTOGL):c.6267+179G>T rs79907299 0.05162
NM_001378609.3(OTOGL):c.818-48T>C rs11114360 0.05148
NM_001378609.3(OTOGL):c.1052+119A>G rs12298611 0.05145
NM_001378609.3(OTOGL):c.946-20T>C rs11114361 0.05059
NM_001378609.3(OTOGL):c.1442-147A>G rs76022205 0.05057
NM_001378609.3(OTOGL):c.1442-197A>G rs78736660 0.05048
NM_001378609.3(OTOGL):c.1587+191A>G rs75633100 0.04804
NM_001378609.3(OTOGL):c.3063+276G>A rs4842346 0.04437
NM_001378609.3(OTOGL):c.818-75A>G rs11114359 0.04410
NM_001378609.3(OTOGL):c.2390+252C>G rs34794160 0.04136
NM_001378609.3(OTOGL):c.79+129A>G rs1244909 0.04028
NM_001378609.3(OTOGL):c.5060A>G (p.Asn1687Ser) rs61735664 0.03634
NM_001378609.3(OTOGL):c.5593+302T>C rs12581835 0.03084
NM_001378609.3(OTOGL):c.6859C>T (p.Pro2287Ser) rs35010860 0.03080
NM_001378609.3(OTOGL):c.4199+101T>A rs80079650 0.02907
NM_001378609.3(OTOGL):c.3125A>G (p.Tyr1042Cys) rs12304169 0.02834
NM_001378609.3(OTOGL):c.2465+78del rs146668579 0.02676
NM_001378609.3(OTOGL):c.3608-114C>A rs71463866 0.02640
NM_001378609.3(OTOGL):c.2681+289T>C rs76392694 0.02549
NM_001378609.3(OTOGL):c.1588-90T>C rs73358932 0.02500
NM_001378609.3(OTOGL):c.490-43A>G rs111594738 0.02457
NM_001378609.3(OTOGL):c.1975G>A (p.Val659Ile) rs76258355 0.02202
NM_001378609.3(OTOGL):c.2929-213A>G rs17006598 0.02118
NM_001378609.3(OTOGL):c.5266-7T>C rs79120261 0.02098
NM_001378609.3(OTOGL):c.2466-29C>T rs114006737 0.01987
NM_001378609.3(OTOGL):c.5407+13T>G rs371577790 0.01958
NM_001378609.3(OTOGL):c.119+134A>C rs17006505 0.01689
NM_001378609.3(OTOGL):c.2790-273G>C rs115377137 0.01443
NM_001378609.3(OTOGL):c.80-298A>G rs116130879 0.01407
NM_001378609.3(OTOGL):c.119+101A>G rs80086846 0.01405
NM_001378609.3(OTOGL):c.2225-24C>T rs116132492 0.01382
NM_001378609.3(OTOGL):c.2014+124C>T rs117005311 0.01356
NM_001378609.3(OTOGL):c.6268-90A>T rs140334598 0.01205
NM_001378609.3(OTOGL):c.334+61A>G rs117959921 0.01154
NM_001378609.3(OTOGL):c.1126A>G (p.Ile376Val) rs76297160 0.01135
NM_001378609.3(OTOGL):c.1285+324A>G rs117167270 0.01100
NM_001378609.3(OTOGL):c.6019+151A>T rs75786323 0.01088
NM_001378609.3(OTOGL):c.4279+39T>A rs117040479 0.01034
NM_001378609.3(OTOGL):c.1441+103C>T rs114631500 0.00962
NM_001378609.3(OTOGL):c.5051-264T>C rs77940378 0.00947
NM_001378609.3(OTOGL):c.5598C>T (p.Cys1866=) rs61734095 0.00946
NM_001378609.3(OTOGL):c.4213T>C (p.Leu1405=) rs114661503 0.00945
NM_001378609.3(OTOGL):c.6156C>T (p.Leu2052=) rs34323912 0.00845
NM_001378609.3(OTOGL):c.6781+191G>C rs114982264 0.00812
NM_001378609.3(OTOGL):c.2928+274C>T rs142794379 0.00779
NM_001378609.3(OTOGL):c.5806+139C>G rs114696323 0.00775
NM_001378609.3(OTOGL):c.2682-318C>T rs145079380 0.00710
NM_001378609.3(OTOGL):c.3608-283T>C rs138298934 0.00708
NM_001378609.3(OTOGL):c.3064-382C>T rs114621500 0.00706
NM_001378609.3(OTOGL):c.3333+161T>C rs183918763 0.00694
NM_001378609.3(OTOGL):c.817+270G>A rs114175333 0.00677
NM_001378609.3(OTOGL):c.3607+12A>C rs190638140 0.00676
NM_001378609.3(OTOGL):c.2390+154A>G rs180831232 0.00664
NM_001378609.3(OTOGL):c.490-338G>A rs186365964 0.00659
NM_001378609.3(OTOGL):c.119+237T>C rs183672613 0.00654
NM_001378609.3(OTOGL):c.3635-256A>C rs76825484 0.00603
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 0.00603
NM_001378609.3(OTOGL):c.817+169A>G rs73358914 0.00593
NM_001378609.3(OTOGL):c.2225-283A>C rs141519817 0.00572
NM_001378609.3(OTOGL):c.2929-305G>T rs535890387 0.00562
NM_001378609.3(OTOGL):c.6268-176A>C rs114073308 0.00558
NM_001378609.3(OTOGL):c.3635-239A>G rs192130528 0.00556
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=) rs73139245 0.00550
NM_001378609.3(OTOGL):c.3451-73T>A rs149841315 0.00523
NM_001378609.3(OTOGL):c.6510+139A>G rs77941364 0.00513
NM_001378609.3(OTOGL):c.6511-88G>A rs115885120 0.00513
NM_001378609.3(OTOGL):c.3213+227A>C rs146488340 0.00464
NM_001378609.3(OTOGL):c.2390+40C>A rs184571314 0.00461
NM_001378609.3(OTOGL):c.3802+26T>A rs150039178 0.00422
NM_001378609.3(OTOGL):c.4199+119T>C rs148591446 0.00396
NM_001378609.3(OTOGL):c.1587+27G>C rs190639487 0.00391
NM_001378609.3(OTOGL):c.343A>C (p.Met115Leu) rs200912084 0.00391
NM_001378609.3(OTOGL):c.945+133A>G rs184035156 0.00390
NM_001378609.3(OTOGL):c.6204A>G (p.Gln2068=) rs35397172 0.00388
NM_001378609.3(OTOGL):c.918G>A (p.Pro306=) rs138795425 0.00356
NM_001378609.3(OTOGL):c.1588-324dup rs548675097 0.00353
NM_001378609.3(OTOGL):c.5227T>A (p.Leu1743Ile) rs61729710 0.00351
NM_001378609.3(OTOGL):c.4860+254A>T rs116724836 0.00348
NM_001378609.3(OTOGL):c.5407+137A>G rs114941752 0.00348
NM_001378609.3(OTOGL):c.168+54G>A rs146729189 0.00338
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_001378609.3(OTOGL):c.2391-249G>C rs139998217 0.00313
NM_001378609.3(OTOGL):c.1711+49_1711+53dup rs531059146 0.00303
NM_001378609.3(OTOGL):c.3635-258G>A rs151319851 0.00292
NM_001378609.3(OTOGL):c.2014+21T>C rs143451542 0.00264
NM_001378609.3(OTOGL):c.1711+11G>A rs111256101 0.00248
NM_001378609.3(OTOGL):c.3450+16A>C rs138262845 0.00238
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_001378609.3(OTOGL):c.2394C>T (p.Phe798=) rs111695304 0.00233
NM_001378609.3(OTOGL):c.5307T>C (p.Tyr1769=) rs183555119 0.00230
NM_001378609.3(OTOGL):c.6736-81A>G rs192293884 0.00230
NM_001378609.3(OTOGL):c.1973A>T (p.His658Leu) rs79711087 0.00222
NM_001378609.3(OTOGL):c.2466-46A>C rs200383694 0.00219
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_001378609.3(OTOGL):c.5050+35T>G rs12820299 0.00209
NM_001378609.3(OTOGL):c.5594-27T>A rs180971703 0.00208
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001378609.3(OTOGL):c.1395-12A>G rs138572593 0.00187
NM_001378609.3(OTOGL):c.6283A>G (p.Ile2095Val) rs149249642 0.00177
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00168
NM_001378609.3(OTOGL):c.236-9C>G rs773199567 0.00148
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys) rs143817729 0.00134
NM_001378609.3(OTOGL):c.93A>G (p.Ala31=) rs147902353 0.00127
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_001378609.3(OTOGL):c.3513C>T (p.Gly1171=) rs145834039 0.00121
NM_001378609.3(OTOGL):c.519G>A (p.Ser173=) rs181528168 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001378609.3(OTOGL):c.3010T>C (p.Leu1004=) rs182548010 0.00116
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_001378609.3(OTOGL):c.236-10T>C rs769949412 0.00109
NM_001378609.3(OTOGL):c.2550C>T (p.Phe850=) rs77835094 0.00106
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_001378609.3(OTOGL):c.4199+10G>A rs149452803 0.00098
NM_001378609.3(OTOGL):c.6626C>T (p.Thr2209Ile) rs146572555 0.00096
NM_001378609.3(OTOGL):c.4280-5T>C rs200889330 0.00091
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00088
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu) rs202061419 0.00074
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00072
NM_001378609.3(OTOGL):c.3172A>G (p.Arg1058Gly) rs201186191 0.00068
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp) rs201328043 0.00068
NM_001378609.3(OTOGL):c.4322C>T (p.Ala1441Val) rs143101932 0.00063
NM_001378609.3(OTOGL):c.1981G>A (p.Val661Met) rs57587257 0.00057
NM_001378609.3(OTOGL):c.169-8T>C rs189897002 0.00055
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe) rs181109105 0.00055
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001378609.3(OTOGL):c.119+7A>G rs753923439 0.00049
NM_001378609.3(OTOGL):c.124G>A (p.Gly42Arg) rs149117887 0.00049
NM_001378609.3(OTOGL):c.3911A>T (p.His1304Leu) rs187723280 0.00047
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_001378609.3(OTOGL):c.4279+12C>T rs200115208 0.00045
NM_001378609.3(OTOGL):c.2391-16C>A rs139336265 0.00044
NM_001378609.3(OTOGL):c.792A>G (p.Gln264=) rs144176460 0.00043
NM_001378609.3(OTOGL):c.4605G>A (p.Arg1535=) rs543306122 0.00042
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001378609.3(OTOGL):c.6020-7A>G rs568908160 0.00039
NM_001378609.3(OTOGL):c.283G>A (p.Gly95Arg) rs201264433 0.00032
NM_001378609.3(OTOGL):c.708C>T (p.Asp236=) rs370298976 0.00030
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 0.00029
NM_001378609.3(OTOGL):c.4568G>A (p.Ser1523Asn) rs200404819 0.00029
NM_001378609.3(OTOGL):c.4708A>G (p.Ile1570Val) rs374784341 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378609.3(OTOGL):c.6616-19C>T rs144322810 0.00025
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001378609.3(OTOGL):c.5069C>T (p.Pro1690Leu) rs185895624 0.00021
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn) rs202156673 0.00019
NM_001378609.3(OTOGL):c.3393T>C (p.Tyr1131=) rs574974638 0.00019
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu) rs199807709 0.00019
NM_001378609.3(OTOGL):c.3913C>T (p.Arg1305Trp) rs557947188 0.00016
NM_001378609.3(OTOGL):c.6691T>A (p.Tyr2231Asn) rs199811430 0.00016
NM_001378609.3(OTOGL):c.95C>T (p.Ser32Leu) rs760011677 0.00016
NM_001378609.3(OTOGL):c.1561A>G (p.Thr521Ala) rs187504761 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.6782-3C>T rs201877625 0.00015
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001378609.3(OTOGL):c.2303C>T (p.Pro768Leu) rs540809976 0.00014
NM_001378609.3(OTOGL):c.4279+13G>A rs376435404 0.00014
NM_001378609.3(OTOGL):c.6926G>A (p.Ser2309Asn) rs149242532 0.00013
NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu) rs372958953 0.00012
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val) rs117411391 0.00011
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.264A>T (p.Gly88=) rs180905972 0.00009
NM_001378609.3(OTOGL):c.3457G>A (p.Val1153Ile) rs200467965 0.00009
NM_001378609.3(OTOGL):c.3714C>T (p.Ser1238=) rs564278017 0.00009
NM_001378609.3(OTOGL):c.4653C>T (p.Asn1551=) rs368610243 0.00009
NM_001378609.3(OTOGL):c.4744-12T>C rs531623469 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001378609.3(OTOGL):c.6521A>G (p.Tyr2174Cys) rs201222095 0.00009
NM_001378609.3(OTOGL):c.4795T>C (p.Cys1599Arg) rs778681002 0.00008
NM_001378609.3(OTOGL):c.5816C>T (p.Thr1939Met) rs371201947 0.00008
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter) rs371465450 0.00007
NM_001378609.3(OTOGL):c.4136G>A (p.Cys1379Tyr) rs180943308 0.00007
NM_001378609.3(OTOGL):c.1198A>T (p.Ile400Phe) rs780388672 0.00006
NM_001378609.3(OTOGL):c.4861-3T>C rs769803656 0.00006
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001378609.3(OTOGL):c.3914G>A (p.Arg1305Gln) rs369089877 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.1021T>C (p.Tyr341His) rs573760702 0.00004
NM_001378609.3(OTOGL):c.2986G>A (p.Asp996Asn) rs148362257 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.3345A>C (p.Pro1115=) rs371747568 0.00004
NM_001378609.3(OTOGL):c.4274G>A (p.Arg1425Gln) rs374659070 0.00004
NM_001378609.3(OTOGL):c.6009C>T (p.Ser2003=) rs773794520 0.00004
NM_001378609.3(OTOGL):c.6122-8C>A rs373997499 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378609.3(OTOGL):c.1457del (p.Val486fs) rs1233562246 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.3803-13C>T rs750299428 0.00003
NM_001378609.3(OTOGL):c.3934C>T (p.His1312Tyr) rs534031917 0.00003
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys) rs910949216 0.00003
NM_001378609.3(OTOGL):c.4861-19T>C rs377343504 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378609.3(OTOGL):c.2936A>G (p.Asp979Gly) rs990572792 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.4368A>G (p.Pro1456=) rs202077499 0.00002
NM_001378609.3(OTOGL):c.4544G>A (p.Arg1515Gln) rs201232946 0.00002
NM_001378609.3(OTOGL):c.535C>T (p.Arg179Trp) rs374355344 0.00002
NM_001378609.3(OTOGL):c.5701A>G (p.Ile1901Val) rs771173954 0.00002
NM_001378609.3(OTOGL):c.809T>A (p.Ile270Asn) rs371086474 0.00002
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378609.3(OTOGL):c.2002A>C (p.Asn668His) rs575237232 0.00001
NM_001378609.3(OTOGL):c.2267C>T (p.Ser756Leu) rs781524697 0.00001
NM_001378609.3(OTOGL):c.2369C>A (p.Thr790Asn) rs569965067 0.00001
NM_001378609.3(OTOGL):c.2930G>T (p.Ser977Ile) rs1195961302 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3376C>A (p.Gln1126Lys) rs876657947 0.00001
NM_001378609.3(OTOGL):c.3501C>A (p.Cys1167Ter) rs755875951 0.00001
NM_001378609.3(OTOGL):c.3649C>T (p.Pro1217Ser) rs1398207365 0.00001
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=) rs747929635 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001378609.3(OTOGL):c.4438C>T (p.Pro1480Ser) rs527599306 0.00001
NM_001378609.3(OTOGL):c.4654G>A (p.Ala1552Thr) rs142647924 0.00001
NM_001378609.3(OTOGL):c.512T>G (p.Leu171Arg) rs775176500 0.00001
NM_001378609.3(OTOGL):c.5743C>T (p.Arg1915Ter) rs1064796988 0.00001
NM_001378609.3(OTOGL):c.5807-12T>C rs541943584 0.00001
NM_001378609.3(OTOGL):c.6268-44T>A rs867576993 0.00001
NM_001378609.3(OTOGL):c.6824C>T (p.Ser2275Leu) rs568423929 0.00001
NM_001378609.3(OTOGL):c.743A>C (p.Asp248Ala) rs759988695 0.00001
NM_001378609.3(OTOGL):c.*104C>T rs79190308
NM_001378609.3(OTOGL):c.1052+310A>G rs12298738
NM_001378609.3(OTOGL):c.1160-115dup rs11438265
NM_001378609.3(OTOGL):c.1187A>G (p.His396Arg)
NM_001378609.3(OTOGL):c.1291G>A (p.Val431Ile)
NM_001378609.3(OTOGL):c.1304G>A (p.Gly435Glu)
NM_001378609.3(OTOGL):c.1350A>G (p.Leu450=) rs557104053
NM_001378609.3(OTOGL):c.1394+98A>G rs75468371
NM_001378609.3(OTOGL):c.1395-155TTTAT[2] rs141833959
NM_001378609.3(OTOGL):c.1402G>T (p.Val468Phe) rs750128612
NM_001378609.3(OTOGL):c.1442-5G>T rs75895717
NM_001378609.3(OTOGL):c.1442-6del rs761399547
NM_001378609.3(OTOGL):c.1442-6dup rs761399547
NM_001378609.3(OTOGL):c.1478C>G (p.Thr493Ser)
NM_001378609.3(OTOGL):c.1711+1G>A rs1555286164
NM_001378609.3(OTOGL):c.1711+37CAAA[7] rs59551371
NM_001378609.3(OTOGL):c.1711+37CAAA[8] rs59551371
NM_001378609.3(OTOGL):c.1711+37CAAA[9] rs59551371
NM_001378609.3(OTOGL):c.1712-3C>A
NM_001378609.3(OTOGL):c.1878G>C (p.Arg626Ser)
NM_001378609.3(OTOGL):c.1882G>A (p.Asp628Asn)
NM_001378609.3(OTOGL):c.1889+148C>T rs12307362
NM_001378609.3(OTOGL):c.1892C>G (p.Ser631Cys) rs373638514
NM_001378609.3(OTOGL):c.1930G>A (p.Ala644Thr)
NM_001378609.3(OTOGL):c.2015-201dup rs34435931
NM_001378609.3(OTOGL):c.2237A>T (p.Gln746Leu)
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
NM_001378609.3(OTOGL):c.236-10del rs71717494
NM_001378609.3(OTOGL):c.236-10dup rs71717494
NM_001378609.3(OTOGL):c.236-3C>T
NM_001378609.3(OTOGL):c.236-5dup rs747148664
NM_001378609.3(OTOGL):c.2401C>T (p.Arg801Cys)
NM_001378609.3(OTOGL):c.2465+202A>G rs9783516
NM_001378609.3(OTOGL):c.2465+230C>G rs564110896
NM_001378609.3(OTOGL):c.2465+65TA[7] rs764341167
NM_001378609.3(OTOGL):c.2465+86_2465+87del rs67970112
NM_001378609.3(OTOGL):c.2465+87dup rs67970112
NM_001378609.3(OTOGL):c.2466-44del rs11324174
NM_001378609.3(OTOGL):c.2466-45_2466-44del rs11324174
NM_001378609.3(OTOGL):c.2468A>T (p.Gln823Leu)
NM_001378609.3(OTOGL):c.2519-285C>A rs71463864
NM_001378609.3(OTOGL):c.2624T>A (p.Met875Lys)
NM_001378609.3(OTOGL):c.2759G>A (p.Gly920Glu)
NM_001378609.3(OTOGL):c.2761G>A (p.Glu921Lys)
NM_001378609.3(OTOGL):c.2790-275C>A rs10862084
NM_001378609.3(OTOGL):c.2801G>A (p.Arg934Gln)
NM_001378609.3(OTOGL):c.2853C>G (p.Tyr951Ter) rs770917728
NM_001378609.3(OTOGL):c.2929-119_2929-115del rs67287510
NM_001378609.3(OTOGL):c.2984A>G (p.Asn995Ser)
NM_001378609.3(OTOGL):c.3063+178T>C rs4842345
NM_001378609.3(OTOGL):c.3063+251del rs368653997
NM_001378609.3(OTOGL):c.3194A>G (p.Lys1065Arg)
NM_001378609.3(OTOGL):c.3213+28T>C rs77786512
NM_001378609.3(OTOGL):c.3214-15_3214-13delinsC rs2137751838
NM_001378609.3(OTOGL):c.3306A>G (p.Val1102=)
NM_001378609.3(OTOGL):c.3333+90_3333+92del rs199636571
NM_001378609.3(OTOGL):c.334+190A>G rs10778720
NM_001378609.3(OTOGL):c.334+265dup rs200301233
NM_001378609.3(OTOGL):c.335-9del rs754987281
NM_001378609.3(OTOGL):c.3451-247_3451-242del rs141795963
NM_001378609.3(OTOGL):c.3514G>A (p.Asp1172Asn)
NM_001378609.3(OTOGL):c.3531C>T (p.Cys1177=) rs1312398457
NM_001378609.3(OTOGL):c.3533C>G (p.Thr1178Ser)
NM_001378609.3(OTOGL):c.3607+4A>G
NM_001378609.3(OTOGL):c.3760del (p.Tyr1254fs) rs1064795124
NM_001378609.3(OTOGL):c.3760dup (p.Tyr1254fs) rs1064795124
NM_001378609.3(OTOGL):c.3802+267_3802+278del rs57024928
NM_001378609.3(OTOGL):c.3802+6T>C
NM_001378609.3(OTOGL):c.3889T>A (p.Trp1297Arg) rs148064564
NM_001378609.3(OTOGL):c.3889T>C (p.Trp1297Arg)
NM_001378609.3(OTOGL):c.3962G>A (p.Ser1321Asn)
NM_001378609.3(OTOGL):c.4146_4147del (p.Cys1383fs)
NM_001378609.3(OTOGL):c.4199+5_4199+8del rs1887509535
NM_001378609.3(OTOGL):c.4200-204A>C rs76018282
NM_001378609.3(OTOGL):c.4200-50dup rs35859327
NM_001378609.3(OTOGL):c.4348+137T>C rs7304059
NM_001378609.3(OTOGL):c.4349-92A>T rs117863885
NM_001378609.3(OTOGL):c.4402A>G (p.Thr1468Ala) rs1064796400
NM_001378609.3(OTOGL):c.4600+44del rs200450365
NM_001378609.3(OTOGL):c.4600+44dup rs200450365
NM_001378609.3(OTOGL):c.4679A>G (p.Tyr1560Cys) rs2137913941
NM_001378609.3(OTOGL):c.4744-5del rs11300714
NM_001378609.3(OTOGL):c.4788T>C (p.Ser1596=) rs1341014439
NM_001378609.3(OTOGL):c.4848G>T (p.Arg1616=) rs1263743190
NM_001378609.3(OTOGL):c.5015G>A (p.Arg1672Gln)
NM_001378609.3(OTOGL):c.5050+145C>T rs34624616
NM_001378609.3(OTOGL):c.5182C>A (p.Pro1728Thr)
NM_001378609.3(OTOGL):c.5265+240dup rs200002548
NM_001378609.3(OTOGL):c.5369T>C (p.Phe1790Ser) rs2138001917
NM_001378609.3(OTOGL):c.5407+20_5407+22dup rs147703967
NM_001378609.3(OTOGL):c.5407+265C>T rs141945473
NM_001378609.3(OTOGL):c.5407+3_5407+6del
NM_001378609.3(OTOGL):c.5429A>G (p.Lys1810Arg) rs755871184
NM_001378609.3(OTOGL):c.5453C>A (p.Pro1818His)
NM_001378609.3(OTOGL):c.5632del (p.Glu1878fs) rs754300929
NM_001378609.3(OTOGL):c.5729C>T (p.Thr1910Met) rs375155261
NM_001378609.3(OTOGL):c.5730G>T (p.Thr1910=) rs762557747
NM_001378609.3(OTOGL):c.5761A>G (p.Met1921Val)
NM_001378609.3(OTOGL):c.5846G>A (p.Cys1949Tyr)
NM_001378609.3(OTOGL):c.5912-124TA[7] rs113605309
NM_001378609.3(OTOGL):c.6019+54dup rs5799468
NM_001378609.3(OTOGL):c.611+259TC[5] rs548878280
NM_001378609.3(OTOGL):c.6121+48dup rs146138915
NM_001378609.3(OTOGL):c.6135C>A (p.Asn2045Lys)
NM_001378609.3(OTOGL):c.6268-43_6268-42insTATATAAA rs201357228
NM_001378609.3(OTOGL):c.6268-63_6268-62insA rs1555304842
NM_001378609.3(OTOGL):c.6268-64_6268-63insA rs34430075
NM_001378609.3(OTOGL):c.6290A>G (p.His2097Arg)
NM_001378609.3(OTOGL):c.6331+59del rs34113015
NM_001378609.3(OTOGL):c.6337G>A (p.Asp2113Asn) rs2138078230
NM_001378609.3(OTOGL):c.6424A>G (p.Ile2142Val)
NM_001378609.3(OTOGL):c.6448A>G (p.Asn2150Asp)
NM_001378609.3(OTOGL):c.6456G>C (p.Thr2152=) rs2717482
NM_001378609.3(OTOGL):c.6475T>C (p.Phe2159Leu)
NM_001378609.3(OTOGL):c.6484G>A (p.Val2162Met)
NM_001378609.3(OTOGL):c.6494C>A (p.Ser2165Ter)
NM_001378609.3(OTOGL):c.6503G>A (p.Cys2168Tyr)
NM_001378609.3(OTOGL):c.6511-116_6511-115dup rs35847160
NM_001378609.3(OTOGL):c.6615+81_6615+82dup rs57527553
NM_001378609.3(OTOGL):c.6616-221A>C rs10862098
NM_001378609.3(OTOGL):c.663C>A (p.Asp221Glu)
NM_001378609.3(OTOGL):c.6736-58C>T rs1037336
NM_001378609.3(OTOGL):c.6777G>T (p.Lys2259Asn) rs553056652
NM_001378609.3(OTOGL):c.6781+134C>T rs138139960
NM_001378609.3(OTOGL):c.6788G>T (p.Arg2263Leu) rs759534300
NM_001378609.3(OTOGL):c.6835A>G (p.Lys2279Glu)
NM_001378609.3(OTOGL):c.7047G>C (p.Thr2349=) rs2717477
NM_001378609.3(OTOGL):c.79+5G>A rs1477091831
NM_001378609.3(OTOGL):c.817+93T>G rs1451105
NM_001378609.3(OTOGL):c.949A>G (p.Ile317Val) rs748705456

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