ClinVar Miner

List of variants in gene OTOF reported as uncertain significance

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Gene type:
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Total variants: 211
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HGVS dbSNP
NC_000002.12:g.26463547T>G
NC_000002.12:g.26464038C>T
NC_000002.12:g.26466025C>T
NC_000002.12:g.26466760G>A
NC_000002.12:g.26466774C>T
NC_000002.12:g.26474575A>G
NC_000002.12:g.26477242C>T
NC_000002.12:g.26489232C>G
NC_000002.12:g.26489679G>A
NC_000002.12:g.26503832C>T
NM_194248.2(OTOF):c.3928_3930dupAAG rs368148603
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.*105C>T rs145899319
NM_194248.3(OTOF):c.*126G>A rs73920281
NM_194248.3(OTOF):c.*136A>G rs1482726409
NM_194248.3(OTOF):c.*179A>G rs750669994
NM_194248.3(OTOF):c.*341G>A rs549185736
NM_194248.3(OTOF):c.*440T>C rs112949167
NM_194248.3(OTOF):c.*770T>A rs886055872
NM_194248.3(OTOF):c.*867C>T rs578132477
NM_194248.3(OTOF):c.*898C>A rs886055871
NM_194248.3(OTOF):c.-110_-108AGG[3] rs886055882
NM_194248.3(OTOF):c.-113G>A rs79734645
NM_194248.3(OTOF):c.-120G>T rs114469860
NM_194248.3(OTOF):c.-43T>A rs201812205
NM_194248.3(OTOF):c.-54G>A rs571817012
NM_194248.3(OTOF):c.-64G>A rs886055881
NM_194248.3(OTOF):c.-67G>A rs13422586
NM_194248.3(OTOF):c.-73G>A rs550236431
NM_194248.3(OTOF):c.-91G>A rs139010880
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1045+4A>G rs754376415
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516
NM_194248.3(OTOF):c.1206-10G>A rs769631334
NM_194248.3(OTOF):c.1227G>C (p.Gly409=) rs886055879
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe)
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934
NM_194248.3(OTOF):c.1803+13G>A rs886055878
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351
NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys) rs1131691297
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile) rs727505153
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu) rs551919295
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359
NM_194248.3(OTOF):c.2253G>A (p.Thr751=) rs201888333
NM_194248.3(OTOF):c.2287G>T (p.Val763Phe) rs138545671
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096
NM_194248.3(OTOF):c.2523+5G>A rs201745796
NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp) rs1553352609
NM_194248.3(OTOF):c.2542G>A (p.Asp848Asn) rs147865867
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141
NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) rs199603169
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091
NM_194248.3(OTOF):c.2605G>T (p.Asp869Tyr) rs886055877
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474
NM_194248.3(OTOF):c.2788C>G (p.Pro930Ala) rs746541787
NM_194248.3(OTOF):c.2807T>A (p.Val936Asp) rs758010380
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333
NM_194248.3(OTOF):c.2882A>G (p.Gln961Arg) rs1358025747
NM_194248.3(OTOF):c.2896A>G (p.Met966Val) rs921891243
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797
NM_194248.3(OTOF):c.2962_2964TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val) rs113433719
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189
NM_194248.3(OTOF):c.3230A>G (p.Gln1077Arg) rs749183807
NM_194248.3(OTOF):c.327+10C>A rs377042002
NM_194248.3(OTOF):c.327+3G>C rs876657935
NM_194248.3(OTOF):c.327+5G>T rs370643920
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233
NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr) rs764162969
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.3316C>A (p.Pro1106Thr) rs727505141
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225
NM_194248.3(OTOF):c.3401G>A (p.Arg1134Gln) rs397517943
NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val) rs755175941
NM_194248.3(OTOF):c.3571-6C>A rs397517944
NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) rs772807679
NM_194248.3(OTOF):c.3599C>T (p.Pro1200Leu) rs762316974
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283
NM_194248.3(OTOF):c.3680G>A (p.Arg1227Gln) rs759559737
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558
NM_194248.3(OTOF):c.3749G>A (p.Arg1250His) rs755411269
NM_194248.3(OTOF):c.3865-12G>A rs374902867
NM_194248.3(OTOF):c.3865-2A>G rs1131691278
NM_194248.3(OTOF):c.3866C>T (p.Thr1289Ile) rs727504839
NM_194248.3(OTOF):c.388G>A (p.Asp130Asn) rs756143591
NM_194248.3(OTOF):c.3893T>C (p.Val1298Ala) rs397517946
NM_194248.3(OTOF):c.3913_3915AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194248.3(OTOF):c.4023+1G>A rs186810296
NM_194248.3(OTOF):c.4092C>G (p.Gly1364=) rs779854387
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
NM_194248.3(OTOF):c.4128G>T (p.Arg1376Ser) rs764461086
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096
NM_194248.3(OTOF):c.4213A>G (p.Ile1405Val) rs201123430
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352
NM_194248.3(OTOF):c.4227+5G>C rs571671530
NM_194248.3(OTOF):c.4239A>G (p.Lys1413=) rs886055876
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4334A>G (p.Glu1445Gly) rs1131691695
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563
NM_194248.3(OTOF):c.4363-6G>A rs199567872
NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471
NM_194248.3(OTOF):c.4629-9C>T rs72853726
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209
NM_194248.3(OTOF):c.4800-11C>T rs41286009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.4894C>A (p.Pro1632Thr)
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln) rs149701372
NM_194248.3(OTOF):c.5083G>T (p.Asp1695Tyr) rs144422709
NM_194248.3(OTOF):c.509+11G>A rs200010052
NM_194248.3(OTOF):c.5097C>G (p.Ile1699Met) rs12386239
NM_194248.3(OTOF):c.5103+2T>A rs1323329701
NM_194248.3(OTOF):c.514G>A (p.Gly172Arg) rs397517949
NM_194248.3(OTOF):c.5193-9T>C rs886055875
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5254T>C (p.Phe1752Leu) rs1085307832
NM_194248.3(OTOF):c.5292-9C>T rs372713647
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366
NM_194248.3(OTOF):c.5440A>G (p.Met1814Val) rs886055874
NM_194248.3(OTOF):c.5460C>T (p.Thr1820=) rs148749290
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892
NM_194248.3(OTOF):c.5650A>G (p.Lys1884Glu) rs886055873
NM_194248.3(OTOF):c.5695G>A (p.Asp1899Asn) rs137986959
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_194248.3(OTOF):c.576A>G (p.Gln192=) rs886055880
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)
NM_194248.3(OTOF):c.591G>A (p.Pro197=) rs779916426
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.611A>C (p.Asp204Ala) rs756388245
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln) rs111033535
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242
NM_194248.3(OTOF):c.80G>A (p.Gly27Glu) rs778056468
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836

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