ClinVar Miner

List of variants in gene OTOF reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 374
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.1804-190T>C rs6719195 0.98509
NM_194248.3(OTOF):c.227+143A>G rs10865425 0.94999
NM_194248.3(OTOF):c.509+282G>A rs4665867 0.89028
NM_194248.3(OTOF):c.328-313G>A rs11126533 0.85321
NM_194248.3(OTOF):c.227+55C>T rs1879760 0.69284
NM_194248.3(OTOF):c.711-49A>C rs6547079 0.64250
NM_194248.3(OTOF):c.897+169T>C rs939814 0.62444
NM_194248.3(OTOF):c.2214+319A>G rs1815040 0.62280
NM_194248.3(OTOF):c.3126+208C>G rs4427975 0.61761
NM_194248.3(OTOF):c.2215-291G>C rs6749978 0.58647
NM_194248.3(OTOF):c.4090+252A>G rs4665326 0.57421
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_194248.3(OTOF):c.509+39A>T rs7575020 0.51850
NM_194248.3(OTOF):c.1206-126A>G rs4665328 0.46895
NM_194248.3(OTOF):c.2215-83C>T rs4665855 0.46217
NM_194248.3(OTOF):c.3126+277C>T rs4458167 0.42252
NM_194248.3(OTOF):c.3864+244T>C rs6743467 0.38510
NM_194248.3(OTOF):c.2991+100C>A rs6712188 0.38424
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_194248.3(OTOF):c.80-281G>A rs1522100 0.34814
NM_194248.3(OTOF):c.79+114C>G rs4665880 0.33988
NM_194248.3(OTOF):c.4023+246A>G rs34796712 0.33736
NC_000002.12:g.26558897G>A rs7556908 0.32523
NM_194248.3(OTOF):c.227+280G>C rs56246466 0.31748
NM_194248.3(OTOF):c.510-39C>T rs884390 0.30697
NM_194248.3(OTOF):c.766-238G>A rs34780859 0.30282
NM_194248.3(OTOF):c.765+180T>C rs7589019 0.25006
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_194248.3(OTOF):c.4500+317G>A rs7576373 0.21767
NM_194248.3(OTOF):c.1045+250G>T rs12052886 0.19409
NM_194248.3(OTOF):c.2214+50C>T rs61323419 0.11888
NM_194248.3(OTOF):c.710+123A>G rs7592534 0.11717
NM_194248.3(OTOF):c.*17+230A>G rs4416176 0.10990
NM_194248.3(OTOF):c.3894+22G>A rs2272072 0.08941
NM_194248.3(OTOF):c.328-59T>C rs55682147 0.08624
NM_194248.3(OTOF):c.5533+67G>A rs2280512 0.08003
NM_194248.3(OTOF):c.1205+209T>C rs10184906 0.07691
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.79+250C>T rs10177332 0.07338
NM_194248.3(OTOF):c.2406+36G>A rs56284635 0.06680
NM_194248.3(OTOF):c.5534-108A>G rs9808099 0.06482
NM_194248.3(OTOF):c.1046-92A>T rs55763868 0.06437
NM_194248.3(OTOF):c.1046-248G>A rs55838869 0.06335
NM_194248.3(OTOF):c.4091-151G>A rs59761427 0.05483
NM_194248.3(OTOF):c.138+28T>G rs13398223 0.05107
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_194248.3(OTOF):c.1393-67C>A rs74802025 0.04606
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03772
NM_194248.3(OTOF):c.3864+33G>A rs41286015 0.03766
NM_194248.3(OTOF):c.3864+49G>A rs41286013 0.03764
NM_194248.3(OTOF):c.327+70C>A rs78296411 0.03755
NM_194248.3(OTOF):c.4090+94C>T rs56265746 0.03747
NM_194248.3(OTOF):c.139-188C>T rs55970371 0.03704
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03615
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03607
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03343
NM_194248.3(OTOF):c.3127-285G>A rs4328596 0.03252
NM_194248.3(OTOF):c.4800-203T>C rs72853723 0.03111
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_194248.3(OTOF):c.328-164T>C rs111736770 0.02469
NM_194248.3(OTOF):c.3734-172G>A rs114834581 0.02432
NM_194248.3(OTOF):c.3865-167C>T rs114410533 0.02428
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_194248.3(OTOF):c.898-102T>C rs78947900 0.02365
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02362
NM_194248.3(OTOF):c.3289-85C>A rs116154138 0.02130
NM_194248.3(OTOF):c.960+141C>G rs41288775 0.02129
NM_194248.3(OTOF):c.*18-30G>A rs72853717 0.02003
NM_194248.3(OTOF):c.4501-139C>A rs73920283 0.01795
NM_194248.3(OTOF):c.138+75G>A rs74640183 0.01741
NM_194248.3(OTOF):c.960+109C>T rs41288777 0.01711
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_194248.3(OTOF):c.1580-96C>T rs72853743 0.01662
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01603
NM_194248.3(OTOF):c.4799+16G>A rs60083916 0.01572
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.2215-598T>C rs115637687 0.01543
NM_194248.3(OTOF):c.4961-188T>C rs144387283 0.01541
NM_194248.3(OTOF):c.3126+302C>A rs148216359 0.01537
NM_194248.3(OTOF):c.4960+261C>A rs114674395 0.01531
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_194248.3(OTOF):c.510-83C>T rs78380906 0.01519
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_194248.3(OTOF):c.80-128G>C rs77131099 0.01413
NM_194248.3(OTOF):c.80-244A>C rs80346263 0.01388
NM_194248.3(OTOF):c.1393-227C>T rs58099956 0.01359
NM_194248.3(OTOF):c.-113G>A rs79734645 0.01288
NM_194248.3(OTOF):c.327+159C>T rs116403205 0.01240
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.1205+84C>T rs116336271 0.01008
NM_194248.3(OTOF):c.5814-121G>A rs79926468 0.00973
NM_194248.3(OTOF):c.3895-76C>T rs72853731 0.00902
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_194248.3(OTOF):c.5533+129del rs199877130 0.00889
NM_194248.3(OTOF):c.2214+260C>T rs111446456 0.00866
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_194248.3(OTOF):c.139-276G>A rs112064342 0.00845
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_194248.3(OTOF):c.3864+40T>C rs74748719 0.00775
NM_194248.3(OTOF):c.584-133T>C rs74803594 0.00751
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_194248.3(OTOF):c.328-202T>C rs137989597 0.00722
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00684
NC_000002.12:g.26558839C>T rs150483734 0.00678
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_194248.3(OTOF):c.1580-117T>G rs114573472 0.00589
NM_194248.3(OTOF):c.*17+47G>A rs76552018 0.00553
NM_194248.3(OTOF):c.4799+173C>G rs111976163 0.00550
NM_194248.3(OTOF):c.3733+39C>T rs113651936 0.00546
NM_194248.3(OTOF):c.1804-236C>A rs186993381 0.00523
NM_194248.3(OTOF):c.2992-84G>A rs137906608 0.00466
NM_194248.3(OTOF):c.1913-21T>C rs74336925 0.00463
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283 0.00434
NM_194248.3(OTOF):c.1580-34C>T rs57350577 0.00427
NM_194248.3(OTOF):c.327+276C>G rs78950422 0.00401
NM_194248.3(OTOF):c.4023+328G>A rs142406713 0.00370
NM_194248.3(OTOF):c.3864+214A>G rs375191459 0.00359
NM_194248.3(OTOF):c.*220C>T rs72853716 0.00356
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00334
NM_194248.3(OTOF):c.1579+19G>A rs192297517 0.00313
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.1580-7G>T rs116430138 0.00309
NM_194248.3(OTOF):c.898-263G>A rs142091986 0.00306
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_194248.3(OTOF):c.79+28G>A rs144623968 0.00287
NM_194248.3(OTOF):c.4091-47C>A rs191528263 0.00283
NM_194248.3(OTOF):c.960+25G>A rs139859221 0.00272
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.37C>T (p.Leu13=) rs76180450 0.00203
NM_194248.3(OTOF):c.1045+38A>G rs116307055 0.00199
NM_194248.3(OTOF):c.4227+40G>C rs373866176 0.00196
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.-43T>A rs201812205 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met) rs138249243 0.00089
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_194248.3(OTOF):c.4961-12C>T rs200764184 0.00061
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_194248.3(OTOF):c.1020C>T (p.Asp340=) rs138250704 0.00048
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.1708C>T (p.Leu570=) rs138474867 0.00039
NM_194248.3(OTOF):c.2215-155A>G rs143933877 0.00038
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_194248.3(OTOF):c.1912+29G>A rs190749704 0.00033
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) rs111033478 0.00027
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00026
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.1393-12C>T rs201631405 0.00016
NM_194248.3(OTOF):c.5505G>A (p.Ala1835=) rs368190044 0.00016
NM_194248.3(OTOF):c.2787G>T (p.Leu929=) rs140874810 0.00014
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00011
NM_194248.3(OTOF):c.961-25G>A rs144587424 0.00011
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.234C>T (p.Ile78=) rs201753818 0.00010
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 0.00010
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4408C>T (p.Arg1470Trp) rs141084986 0.00009
NM_194248.3(OTOF):c.4459A>G (p.Asn1487Asp) rs376771750 0.00009
NM_194248.3(OTOF):c.1134C>T (p.Ala378=) rs542735691 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_194248.3(OTOF):c.*18-7T>G rs1340070288 0.00006
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln) rs1330253297 0.00005
NM_194248.3(OTOF):c.3861C>T (p.Asp1287=) rs147552283 0.00005
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516 0.00004
NM_194248.3(OTOF):c.1186G>A (p.Asp396Asn) rs760394336 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.2316-29C>T rs376176080 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His) rs368633281 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 0.00003
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr) rs771560305 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) rs772807679 0.00003
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.631C>T (p.Arg211Trp) rs138720253 0.00003
NM_194248.3(OTOF):c.828C>T (p.Cys276=) rs111033447 0.00003
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.2215-136C>T rs371848783 0.00002
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_194248.3(OTOF):c.3379C>T (p.Arg1127Trp) rs918324092 0.00002
NM_194248.3(OTOF):c.4852C>T (p.Arg1618Cys) rs150131683 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_194248.3(OTOF):c.1032G>A (p.Val344=) rs149018719 0.00001
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350 0.00001
NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys) rs1131691297 0.00001
NM_194248.3(OTOF):c.2028C>T (p.Ala676=) rs752294415 0.00001
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) rs773354262 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.2991+6G>A rs969944898 0.00001
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_194248.3(OTOF):c.4499G>A (p.Arg1500Gln) rs766918362 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5694C>T (p.Asn1898=) rs1318486079 0.00001
NM_194323.3(OTOF):c.3522C>T (p.Asp1174=) rs945370352 0.00001
NC_000002.12:g.26558819TG[9] rs10552648
NM_194248.3(OTOF):c.*17+143_*17+144insCG rs574991484
NM_194248.3(OTOF):c.*17+59_*17+60insACAT rs58898450
NM_194248.3(OTOF):c.*348G>T rs112312933
NM_194248.3(OTOF):c.1045+52_1045+65del rs71915319
NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter) rs1558492758
NM_194248.3(OTOF):c.1185C>A (p.Thr395=) rs61739877
NM_194248.3(OTOF):c.1205+145C>T rs55877994
NM_194248.3(OTOF):c.1328C>T (p.Ala443Val)
NM_194248.3(OTOF):c.1366G>A (p.Val456Met)
NM_194248.3(OTOF):c.138+251G>A rs73923714
NM_194248.3(OTOF):c.1393-301C>T rs56846135
NM_194248.3(OTOF):c.1393-55_1393-54insATGCACCCACTCACACACAC rs1553354220
NM_194248.3(OTOF):c.1393-69CA[8] rs370631653
NM_194248.3(OTOF):c.1397_1409del (p.Lys466fs) rs1064795376
NM_194248.3(OTOF):c.1418G>C (p.Ser473Thr)
NM_194248.3(OTOF):c.1505C>T (p.Ser502Leu)
NM_194248.3(OTOF):c.1580-7_1580-6delinsTT rs2148057126
NM_194248.3(OTOF):c.1747C>G (p.Pro583Ala)
NM_194248.3(OTOF):c.1867G>A (p.Asp623Asn) rs763063323
NM_194248.3(OTOF):c.1869C>T (p.Asp623=)
NM_194248.3(OTOF):c.1927G>A (p.Glu643Lys)
NM_194248.3(OTOF):c.1963C>T (p.Pro655Ser)
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.2015G>A (p.Ser672Asn)
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+74del rs10714255
NM_194248.3(OTOF):c.2215-204_2215-203del rs55806442
NM_194248.3(OTOF):c.229C>T (p.Leu77Phe)
NM_194248.3(OTOF):c.2332G>A (p.Ala778Thr)
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2407-10_2407-9delinsAA rs2148051425
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.2457C>T (p.His819=)
NM_194248.3(OTOF):c.2551A>T (p.Ile851Phe)
NM_194248.3(OTOF):c.2580C>A (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2580C>T (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2620A>T (p.Ile874Phe)
NM_194248.3(OTOF):c.2639G>A (p.Gly880Asp)
NM_194248.3(OTOF):c.2677-190G>C rs183809378
NM_194248.3(OTOF):c.2677-224_2677-213del rs569183061
NM_194248.3(OTOF):c.2857G>T (p.Val953Phe)
NM_194248.3(OTOF):c.2935G>A (p.Gly979Arg)
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.2992-47_2992-46dup rs552439777
NM_194248.3(OTOF):c.2992-47dup rs552439777
NM_194248.3(OTOF):c.3247G>A (p.Ala1083Thr)
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
NM_194248.3(OTOF):c.376G>T (p.Gly126Cys)
NM_194248.3(OTOF):c.3844A>G (p.Thr1282Ala) rs2148039850
NM_194248.3(OTOF):c.3865-2A>G rs1131691278
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.3913AAG[8] (p.Lys1309_Lys1310dup) rs368148603
NM_194248.3(OTOF):c.3951_3965dup (p.Pro1321_Asp1322insGluGluGluGluPro)
NM_194248.3(OTOF):c.4193C>T (p.Pro1398Leu)
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4334A>G (p.Glu1445Gly) rs1131691695
NM_194248.3(OTOF):c.4362+54del rs3215308
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
NM_194248.3(OTOF):c.4667T>A (p.Met1556Lys)
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4799+218G>A rs58155484
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp) rs377378925
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.4918A>G (p.Asn1640Asp)
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5193-3del
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5233G>A (p.Val1745Ile)
NM_194248.3(OTOF):c.5254T>C (p.Phe1752Leu) rs1085307832
NM_194248.3(OTOF):c.5461G>A (p.Glu1821Lys)
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=) rs142748621
NM_194248.3(OTOF):c.5534-198A>T rs114397533
NM_194248.3(OTOF):c.5581del (p.Ala1861fs) rs1572399804
NM_194248.3(OTOF):c.5621A>T (p.Asp1874Val)
NM_194248.3(OTOF):c.5654G>A (p.Arg1885His)
NM_194248.3(OTOF):c.5668T>C (p.Trp1890Arg) rs1572399566
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5813+9C>T rs1328837186
NM_194248.3(OTOF):c.633G>C (p.Arg211=) rs1572456253
NM_194248.3(OTOF):c.766-192del rs113467224
NM_194248.3(OTOF):c.791G>A (p.Arg264Gln) rs370475628
NM_194248.3(OTOF):c.897+278_897+279insA rs150805853
NM_194248.3(OTOF):c.897+285_897+286insT rs1553356373
NM_194248.3(OTOF):c.898-134G>A rs13409763
NM_194248.3(OTOF):c.898-54_898-37del rs576889634
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.904G>A (p.Val302Ile)
NM_194248.3(OTOF):c.964A>T (p.Ile322Phe)
NM_194323.3(OTOF):c.3560_3562del (p.Ile1187del)
NM_194323.3(OTOF):c.3563A>G (p.Lys1188Arg)
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359

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