ClinVar Miner

List of variants in gene OTOG reported by GeneDx

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Gene type:
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Total variants: 128
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HGVS dbSNP
NM_001277269.1(OTOG):c.1032+9C>A rs147843540
NM_001277269.1(OTOG):c.1033-35A>C rs7130051
NM_001277269.1(OTOG):c.1041C>G (p.Tyr347Ter) rs577674003
NM_001277269.1(OTOG):c.1086C>T (p.His362=) rs575344158
NM_001277269.1(OTOG):c.1095C>T (p.Val365=) rs74921579
NM_001277269.1(OTOG):c.1123A>T (p.Thr375Ser) rs7130190
NM_001277269.1(OTOG):c.1194G>A (p.Ala398=) rs61731248
NM_001277269.1(OTOG):c.1251T>C (p.Thr417=) rs73418062
NM_001277269.1(OTOG):c.131G>A (p.Arg44Gln) rs111425080
NM_001277269.1(OTOG):c.1322G>A (p.Arg441Gln) rs528799547
NM_001277269.1(OTOG):c.1359C>T (p.Asp453=) rs571886426
NM_001277269.1(OTOG):c.1389C>A (p.Phe463Leu) rs189947237
NM_001277269.1(OTOG):c.1405G>A (p.Val469Met) rs756129872
NM_001277269.1(OTOG):c.1608T>C (p.Cys536=) rs1257902336
NM_001277269.1(OTOG):c.1680+69G>A rs4757545
NM_001277269.1(OTOG):c.1796T>C (p.Ile599Thr) rs751269089
NM_001277269.1(OTOG):c.1833G>A (p.Arg611=) rs73418068
NM_001277269.1(OTOG):c.1968T>C (p.Asn656=) rs559694792
NM_001277269.1(OTOG):c.1976C>T (p.Thr659Met) rs7112749
NM_001277269.1(OTOG):c.1991+90G>A rs79748590
NM_001277269.1(OTOG):c.2074T>C (p.Ser692Pro) rs7106548
NM_001277269.1(OTOG):c.2134G>A (p.Ala712Thr) rs113745835
NM_001277269.1(OTOG):c.21G>A (p.Ala7=) rs149500671
NM_001277269.1(OTOG):c.2310C>T (p.Arg770=) rs16934404
NM_001277269.1(OTOG):c.2329+8C>T rs1027542414
NM_001277269.1(OTOG):c.2330-7A>G rs200998174
NM_001277269.1(OTOG):c.2367C>T (p.Cys789=) rs147247967
NM_001277269.1(OTOG):c.2376G>A (p.Pro792=) rs4757548
NM_001277269.1(OTOG):c.2434G>A (p.Asp812Asn) rs141010212
NM_001277269.1(OTOG):c.2499C>G (p.Thr833=) rs771404689
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) rs61734214
NM_001277269.1(OTOG):c.2597+10G>A rs4756901
NM_001277269.1(OTOG):c.273C>T (p.Ser91=) rs11823045
NM_001277269.1(OTOG):c.2755G>A (p.Ala919Thr) rs2355466
NM_001277269.1(OTOG):c.2759G>T (p.Arg920Leu) rs144060182
NM_001277269.1(OTOG):c.2775G>A (p.Ser925=) rs55881341
NM_001277269.1(OTOG):c.2808C>T (p.His936=) rs61910692
NM_001277269.1(OTOG):c.2819G>A (p.Cys940Tyr) rs1309976795
NM_001277269.1(OTOG):c.2919C>T (p.Gly973=) rs893483749
NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) rs75133799
NM_001277269.1(OTOG):c.3224G>A (p.Arg1075Gln) rs11024333
NM_001277269.1(OTOG):c.3270C>A (p.Thr1090=) rs875696
NM_001277269.1(OTOG):c.328+10A>T rs141597314
NM_001277269.1(OTOG):c.328+4A>C rs535970426
NM_001277269.1(OTOG):c.3325-38A>C rs11024334
NM_001277269.1(OTOG):c.3325-8C>G rs12792504
NM_001277269.1(OTOG):c.3335C>T (p.Ala1112Val) rs7936324
NM_001277269.1(OTOG):c.3336G>A (p.Ala1112=) rs539192142
NM_001277269.1(OTOG):c.3371A>G (p.Asn1124Ser) rs571215839
NM_001277269.1(OTOG):c.3372T>C (p.Asn1124=) rs1465273332
NM_001277269.1(OTOG):c.3386C>T (p.Pro1129Leu) rs7936354
NM_001277269.1(OTOG):c.3444+15C>T rs7936484
NM_001277269.1(OTOG):c.3459C>T (p.Leu1153=) rs7122875
NM_001277269.1(OTOG):c.3561+10C>A rs113275496
NM_001277269.1(OTOG):c.3561+37C>T rs117718159
NM_001277269.1(OTOG):c.3654C>T (p.Ser1218=) rs143393149
NM_001277269.1(OTOG):c.3700C>T (p.Arg1234Ter) rs560339163
NM_001277269.1(OTOG):c.3704C>T (p.Thr1235Ile) rs938096068
NM_001277269.1(OTOG):c.3710G>A (p.Arg1237His) rs116947228
NM_001277269.1(OTOG):c.3870G>A (p.Val1290=) rs527500084
NM_001277269.1(OTOG):c.4009C>T (p.Arg1337Cys) rs557335789
NM_001277269.1(OTOG):c.4123G>C (p.Ala1375Pro) rs7934079
NM_001277269.1(OTOG):c.4618A>T (p.Thr1540Ser) rs747022159
NM_001277269.1(OTOG):c.4693G>T (p.Gly1565Ter) rs897822685
NM_001277269.1(OTOG):c.4857G>A (p.Ser1619=) rs369768224
NM_001277269.1(OTOG):c.4902C>T (p.Val1634=) rs780581249
NM_001277269.1(OTOG):c.4940C>T (p.Pro1647Leu) rs2041028
NM_001277269.1(OTOG):c.5092C>T (p.Gln1698Ter) rs930688767
NM_001277269.1(OTOG):c.5256A>C (p.Pro1752=) rs959286824
NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) rs193083374
NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) rs61744602
NM_001277269.1(OTOG):c.5416C>T (p.Arg1806Cys) rs1246889104
NM_001277269.1(OTOG):c.5495C>G (p.Ala1832Gly) rs1003490
NM_001277269.1(OTOG):c.5495C>T (p.Ala1832Val) rs1003490
NM_001277269.1(OTOG):c.570C>T (p.Ser190=) rs61995706
NM_001277269.1(OTOG):c.5804T>C (p.Met1935Thr) rs61732913
NM_001277269.1(OTOG):c.5840C>T (p.Thr1947Met) rs7111528
NM_001277269.1(OTOG):c.5864C>T (p.Thr1955Met) rs75677194
NM_001277269.1(OTOG):c.6160-73G>T rs77217986
NM_001277269.1(OTOG):c.6215G>A (p.Arg2072His) rs188527711
NM_001277269.1(OTOG):c.627T>G (p.Ala209=) rs562856597
NM_001277269.1(OTOG):c.6328+54G>A rs76583012
NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) rs397514608
NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) rs142799217
NM_001277269.1(OTOG):c.7081A>G (p.Ile2361Val) rs191722806
NM_001277269.1(OTOG):c.7098T>C (p.Ser2366=) rs7114549
NM_001277269.1(OTOG):c.724G>A (p.Ala242Thr) rs61910753
NM_001277269.1(OTOG):c.7366G>A (p.Gly2456Ser) rs61745322
NM_001277269.1(OTOG):c.7436G>A (p.Arg2479His) rs61743165
NM_001277269.1(OTOG):c.7516+11A>T rs12277962
NM_001277269.1(OTOG):c.7570C>T (p.Arg2524Cys) rs533820347
NM_001277269.1(OTOG):c.7571G>A (p.Arg2524His) rs114242958
NM_001277269.1(OTOG):c.7681C>T (p.Leu2561=) rs11024350
NM_001277269.1(OTOG):c.76C>T (p.Leu26=) rs947155842
NM_001277269.1(OTOG):c.7729+1G>A rs548496846
NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) rs61995750
NM_001277269.1(OTOG):c.7930+33G>A rs55858137
NM_001277269.1(OTOG):c.7930+85G>A rs12290375
NM_001277269.1(OTOG):c.7930+8C>T rs11024353
NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) rs567966154
NM_001277269.1(OTOG):c.8204T>C (p.Leu2735Pro) rs180703235
NM_001277269.1(OTOG):c.8249G>A (p.Arg2750Gln) rs12422210
NM_001277269.1(OTOG):c.8298C>T (p.Phe2766=) rs61730948
NM_001277269.1(OTOG):c.8334C>A (p.Pro2778=) rs569159135
NM_001277269.1(OTOG):c.8463C>T (p.Ser2821=) rs1038235034
NM_001277269.1(OTOG):c.8498-55T>C rs76783895
NM_001277269.1(OTOG):c.8508T>C (p.Asp2836=) rs940623349
NM_001277269.1(OTOG):c.8578-8C>T rs182750732
NM_001277269.1(OTOG):c.8613C>T (p.Ser2871=) rs931856983
NM_001277269.1(OTOG):c.879G>A (p.Lys293=) rs570688276
NM_001277269.1(OTOG):c.919G>A (p.Val307Met) rs186310325
NM_001277269.1(OTOG):c.935A>G (p.His312Arg) rs189159426
NM_001277269.1(OTOG):c.953C>A (p.Ala318Asp) rs61611064
NM_001277269.2(OTOG):c.8277C>T rs10832824
NM_001277269.2(OTOG):c.8400G>C rs2023483
NM_001277269.2(OTOG):c.8726G>C rs11024357
NM_001277269.2(OTOG):c.[3719C>T] rs117005078
NM_001277269.2(OTOG):c.[4058G>A] rs145689709
NM_001277269.2(OTOG):c.[4642C>T] rs117380920
NM_001277269.2(OTOG):c.[7667G>A] rs76461792
NM_001277269.2(OTOG):c.[805G>A] rs61978648
NM_001277269.2(OTOG):c.[8405G>A] rs117315845
NM_001277269.2(OTOG):c.[8526G>C] rs61997203
NM_001292063.1(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) rs376684690
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945

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