ClinVar Miner

List of variants in gene OTOG reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.1644+243_1644+245del rs1565093561 0.04399
NM_001292063.2(OTOG):c.3006+272A>G rs60370273 0.03609
NM_001292063.2(OTOG):c.3709+239G>A rs80080197 0.03600
NM_001292063.2(OTOG):c.6124-73G>T rs77217986 0.03510
NM_001292063.2(OTOG):c.6439-239_6439-238insTT rs760034953 0.02050
NM_001292063.2(OTOG):c.3525+37C>T rs117718159 0.02018
NM_001292063.2(OTOG):c.3710-273C>T rs73418086 0.01846
NM_001292063.2(OTOG):c.2081-70A>G rs140774757 0.01591
NM_001292063.2(OTOG):c.1955+268C>A rs150789061 0.01310
NM_001292063.2(OTOG):c.4157-135T>C rs113019435 0.01270
NM_001292063.2(OTOG):c.7480+118G>C rs116447601 0.01110
NM_001292063.2(OTOG):c.8462-55T>C rs76783895 0.01083
NM_001292063.2(OTOG):c.4274+106G>A rs7131514 0.01030
NM_001292063.2(OTOG):c.6124-193C>T rs76604911 0.01017
NM_001292063.2(OTOG):c.6438+283A>T rs7105215 0.01012
NM_001292063.2(OTOG):c.6712+264C>T rs116817711 0.00868
NM_001292063.2(OTOG):c.292+165G>T rs7929777 0.00819
NM_001292063.2(OTOG):c.1499-240A>G rs11024321 0.00768
NM_001292063.2(OTOG):c.1644+243del rs1565093559 0.00764
NM_001292063.2(OTOG):c.1644+247T>A rs867603310 0.00755
NM_001292063.2(OTOG):c.7795+202G>A rs116517987 0.00744
NM_001292063.2(OTOG):c.8542-24G>T rs35734300 0.00739
NM_001292063.2(OTOG):c.866-81C>T rs74446703 0.00710
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
NM_001292063.2(OTOG):c.1342+43G>A rs145649198 0.00669
NM_001292063.2(OTOG):c.7936-77G>A rs140204160 0.00593
NM_001292063.2(OTOG):c.1498+33C>T rs150977482 0.00570
NM_001292063.2(OTOG):c.3878-245A>G rs149761970 0.00562
NM_001292063.2(OTOG):c.1644+241_1644+249del rs1378855573 0.00553
NM_001292063.2(OTOG):c.540+173C>A rs188778961 0.00542
NM_001292063.2(OTOG):c.541-21G>A rs182765833 0.00535
NM_001292063.2(OTOG):c.8415+111C>T rs182620196 0.00473
NM_001292063.2(OTOG):c.7045A>G (p.Ile2349Val) rs191722806 0.00457
NM_001292063.2(OTOG):c.7072+291C>G rs151105465 0.00457
NM_001292063.2(OTOG):c.7693+142C>G rs114450252 0.00456
NM_001292063.2(OTOG):c.3006+52C>A rs113025364 0.00455
NM_001292063.2(OTOG):c.7072+41del rs377300677 0.00453
NM_001292063.2(OTOG):c.3525+10C>A rs113275496 0.00451
NM_001292063.2(OTOG):c.2760-331C>G rs11024328 0.00437
NM_001292063.2(OTOG):c.1343-57G>A rs76731168 0.00432
NM_001292063.2(OTOG):c.659+210G>A rs138749442 0.00429
NM_001292063.2(OTOG):c.6438+316G>A rs74729979 0.00428
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_001292063.2(OTOG):c.7795+25G>A rs570522245 0.00417
NM_001292063.2(OTOG):c.4157-240C>T rs141491606 0.00412
NM_001292063.2(OTOG):c.866-295G>A rs78455645 0.00402
NM_001292063.2(OTOG):c.2967G>A (p.Pro989=) rs11024331 0.00392
NM_001292063.2(OTOG):c.7936-35C>T rs185592587 0.00390
NM_001292063.2(OTOG):c.1343-272G>A rs143931543 0.00389
NM_001292063.2(OTOG):c.6439-46C>T rs146984141 0.00386
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001292063.2(OTOG):c.843G>A (p.Lys281=) rs570688276 0.00312
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) rs76461792 0.00308
NM_001292063.2(OTOG):c.1213+14A>C rs143302987 0.00290
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001292063.2(OTOG):c.1956-299G>A rs142809427 0.00283
NM_001292063.2(OTOG):c.7894+28C>T rs140239162 0.00279
NM_001292063.2(OTOG):c.2081-291C>T rs75878419 0.00276
NM_001292063.2(OTOG):c.6529-47G>C rs111237302 0.00261
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001292063.2(OTOG):c.1104-4A>C rs149163390 0.00257
NM_001292063.2(OTOG):c.2605+255G>A rs536400381 0.00257
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln) rs145689709 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001292063.2(OTOG):c.1340A>G (p.Asn447Ser) rs115772736 0.00238
NM_001292063.2(OTOG):c.1397T>G (p.Phe466Cys) rs147355325 0.00232
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.1644+232A>G rs74436205 0.00227
NM_001292063.2(OTOG):c.5694A>G (p.Val1898=) rs573436885 0.00223
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) rs376684690 0.00210
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=) rs187445787 0.00200
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His) rs117315845 0.00188
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp) rs199968574 0.00166
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_001292063.2(OTOG):c.6907C>T (p.Arg2303Cys) rs568549806 0.00109
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_001292063.2(OTOG):c.1286G>A (p.Arg429Gln) rs528799547 0.00100
NM_001292063.2(OTOG):c.5121T>G (p.Val1707=) rs563661860 0.00095
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001292063.2(OTOG):c.4262G>A (p.Arg1421Gln) rs778218478 0.00093
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.7254G>A (p.Pro2418=) rs556820669 0.00072
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001292063.2(OTOG):c.426G>A (p.Ala142=) rs548971081 0.00066
NM_001292063.2(OTOG):c.879C>T (p.Asp293=) rs144220847 0.00063
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.8538C>T (p.Thr2846=) rs201952556 0.00061
NM_001292063.2(OTOG):c.591T>G (p.Ala197=) rs562856597 0.00060
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_001292063.2(OTOG):c.1050C>T (p.His350=) rs575344158 0.00053
NM_001292063.2(OTOG):c.1323C>T (p.Asp441=) rs571886426 0.00051
NM_001292063.2(OTOG):c.7935+11G>A rs188456860 0.00050
NM_001292063.2(OTOG):c.1213+38G>C rs373282902 0.00048
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) rs56236649 0.00048
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=) rs539684481 0.00048
NM_001292063.2(OTOG):c.3417C>T (p.Asp1139=) rs149548384 0.00043
NM_001292063.2(OTOG):c.6669G>T (p.Val2223=) rs375157277 0.00041
NM_001292063.2(OTOG):c.7866C>T (p.Pro2622=) rs200566292 0.00036
NM_001292063.2(OTOG):c.1623G>A (p.Leu541=) rs755383141 0.00035
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001292063.2(OTOG):c.6934-10A>G rs543721711 0.00031
NM_001292063.2(OTOG):c.8022G>A (p.Pro2674=) rs753850661 0.00027
NM_001292063.2(OTOG):c.2214C>T (p.Cys738=) rs529043916 0.00024
NM_001292063.2(OTOG):c.8427C>T (p.Ser2809=) rs1038235034 0.00024
NM_001292063.2(OTOG):c.6713-26T>A rs199713176 0.00023
NM_001292063.2(OTOG):c.6124-23C>T rs139211526 0.00022
NM_001292063.2(OTOG):c.8202C>T (p.Tyr2734=) rs747451945 0.00022
NM_001292063.2(OTOG):c.4866C>T (p.Val1622=) rs780581249 0.00019
NM_001292063.2(OTOG):c.7461C>T (p.Cys2487=) rs530992812 0.00019
NM_001292063.2(OTOG):c.76C>T (p.Leu26=) rs947155842 0.00016
NM_001292063.2(OTOG):c.7542C>G (p.Leu2514=) rs752641698 0.00013
NM_001292063.2(OTOG):c.7586-13G>A rs772570995 0.00013
NM_001292063.2(OTOG):c.5577G>A (p.Ala1859=) rs754862622 0.00012
NM_001292063.2(OTOG):c.8358C>T (p.Ala2786=) rs573309373 0.00011
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001292063.2(OTOG):c.1932T>C (p.Asn644=) rs559694792 0.00006
NM_001292063.2(OTOG):c.2463C>G (p.Thr821=) rs771404689 0.00006
NM_001292063.2(OTOG):c.3300G>A (p.Ala1100=) rs539192142 0.00006
NM_001292063.2(OTOG):c.966G>A (p.Pro322=) rs749267915 0.00006
NM_001292063.2(OTOG):c.2293+8C>T rs1027542414 0.00005
NM_001292063.2(OTOG):c.8577C>T (p.Ser2859=) rs931856983 0.00005
NM_001292063.2(OTOG):c.6444C>T (p.His2148=) rs776163972 0.00004
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=) rs774023506 0.00003
NM_001292063.2(OTOG):c.7800T>C (p.Cys2600=) rs1333602999 0.00002
NM_001292063.2(OTOG):c.8418T>G (p.Val2806=) rs765249997 0.00002
NM_001292063.2(OTOG):c.2625C>G (p.Gly875=) rs876657552 0.00001
NM_001292063.2(OTOG):c.2883C>T (p.Gly961=) rs893483749 0.00001
NM_001292063.2(OTOG):c.3336T>C (p.Asn1112=) rs1465273332 0.00001
NM_001292063.2(OTOG):c.3735A>C (p.Leu1245=) rs1030164887 0.00001
NM_001292063.2(OTOG):c.3834G>A (p.Val1278=) rs527500084 0.00001
NM_001292063.2(OTOG):c.441C>T (p.His147=) rs567294014 0.00001
NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=) rs559123807 0.00001
NM_001292063.2(OTOG):c.5073A>C (p.Ser1691=) rs1049172228 0.00001
NM_001292063.2(OTOG):c.6713-7C>G rs561870608 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NM_001292063.2(OTOG):c.1342+267GGAA[3] rs748854211
NM_001292063.2(OTOG):c.1572T>C (p.Cys524=) rs1257902336
NM_001292063.2(OTOG):c.1644+239_1644+248del rs1191650715
NM_001292063.2(OTOG):c.1644+240AT[14] rs375919593
NM_001292063.2(OTOG):c.1644+240dup rs560554139
NM_001292063.2(OTOG):c.1644+36G>A
NM_001292063.2(OTOG):c.216+226_216+244del rs56402246
NM_001292063.2(OTOG):c.216+229_216+244del rs56402246
NM_001292063.2(OTOG):c.216+231_216+244del rs56402246
NM_001292063.2(OTOG):c.216+234_216+244del rs56402246
NM_001292063.2(OTOG):c.216+244T>A rs947297014
NM_001292063.2(OTOG):c.2294-11C>A rs770347038
NM_001292063.2(OTOG):c.2487-5dup rs562652501
NM_001292063.2(OTOG):c.2759+187del rs60754867
NM_001292063.2(OTOG):c.3289-8C>T rs12792504
NM_001292063.2(OTOG):c.3777G>C (p.Ala1259=) rs762425435
NM_001292063.2(OTOG):c.4821G>A (p.Ser1607=) rs369768224
NM_001292063.2(OTOG):c.5220A>C (p.Pro1740=) rs959286824
NM_001292063.2(OTOG):c.541-133C>G rs73418056
NM_001292063.2(OTOG):c.6123+243_6123+252del rs201131960
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6439-223_6439-222insCTCCTTCCTTCC rs1423101748
NM_001292063.2(OTOG):c.6439-238_6439-237insCCTCCT rs1565119211
NM_001292063.2(OTOG):c.6439-284CCTT[13] rs10580062
NM_001292063.2(OTOG):c.659+23C>A rs73418059
NM_001292063.2(OTOG):c.6712+57C>A rs75199341
NM_001292063.2(OTOG):c.6713-304del rs772265474
NM_001292063.2(OTOG):c.6713-304dup rs772265474
NM_001292063.2(OTOG):c.6713-305_6713-304dup rs772265474
NM_001292063.2(OTOG):c.6713-312_6713-311insTGG rs1428928180
NM_001292063.2(OTOG):c.6713-313T>G rs867536253
NM_001292063.2(OTOG):c.6713-345TC[15] rs143019994
NM_001292063.2(OTOG):c.8189C>T (p.Ala2730Val) rs913708652
NM_001292063.2(OTOG):c.8191-12C>T rs11828989
NM_001292063.2(OTOG):c.8298C>A (p.Pro2766=) rs569159135
NM_001292063.2(OTOG):c.8461+176T>G rs138051536

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