ClinVar Miner

List of variants in gene OTOF studied for not provided

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Gene type:
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Total variants: 168
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HGVS dbSNP
GRCh37/hg19 2p23.3(chr2:26711829-26725045)x1
NM_194248.2(OTOF):c.5098G>C rs199766465
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.1005C>T (p.Gly335=) rs1156648103
NM_194248.3(OTOF):c.1020C>T (p.Asp340=) rs138250704
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901
NM_194248.3(OTOF):c.1046-92A>T rs55763868
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.1185C>T (p.Thr395=) rs61739877
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459
NM_194248.3(OTOF):c.138+28T>G rs13398223
NM_194248.3(OTOF):c.1397_1409del (p.Lys466fs) rs1064795376
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499
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.1580-6C>T rs114260271
NM_194248.3(OTOF):c.1580-7G>T rs116430138
NM_194248.3(OTOF):c.1594C>T (p.Leu532=) rs746214256
NM_194248.3(OTOF):c.1620C>T (p.Tyr540=) rs149357083
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.1723G>A (p.Val575Met) rs55676840
NM_194248.3(OTOF):c.1791G>A (p.Thr597=) rs369375897
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys) rs1131691297
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784
NM_194248.3(OTOF):c.2010C>T (p.Asn670=) rs374029967
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640
NM_194248.3(OTOF):c.2148C>T (p.Ser716=) rs369870336
NM_194248.3(OTOF):c.2175C>T (p.Leu725=) rs1572433929
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171
NM_194248.3(OTOF):c.2205C>T (p.Ala735=) rs761710670
NM_194248.3(OTOF):c.2215-77T>G rs76130130
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2246T>A (p.Ile749Asn) rs372085440
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524
NM_194248.3(OTOF):c.2253G>A (p.Thr751=) rs201888333
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569
NM_194248.3(OTOF):c.234C>T (p.Ile78=) rs201753818
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2406+36G>A rs56284635
NM_194248.3(OTOF):c.2406+8C>T rs745420966
NM_194248.3(OTOF):c.2438G>A (p.Arg813Gln) rs767282723
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.3(OTOF):c.2511C>T (p.Phe837=) rs1572430074
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327
NM_194248.3(OTOF):c.2520C>T (p.Asp840=) rs147061068
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.2580C>A (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2580C>T (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2649C>T (p.Cys883=) rs397515593
NM_194248.3(OTOF):c.2664G>A (p.Thr888=) rs112230402
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.2703G>A (p.Ser901=) rs4997760
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.2887C>T (p.Arg963Ter) rs80356595
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283
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.3247G>C (p.Ala1083Pro) rs80356574
NM_194248.3(OTOF):c.327+10C>A rs377042002
NM_194248.3(OTOF):c.327+5G>T rs370643920
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233
NM_194248.3(OTOF):c.328-59T>C rs55682147
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191
NM_194248.3(OTOF):c.3571-9A>C rs1572420832
NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) rs772807679
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) rs111033478
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622
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.3733+39C>T rs113651936
NM_194248.3(OTOF):c.3734-10A>C rs73920284
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414
NM_194248.3(OTOF):c.37C>T (p.Leu13=) rs76180450
NM_194248.3(OTOF):c.3865-2A>G rs1131691278
NM_194248.3(OTOF):c.3888G>A (p.Val1296=) rs753038809
NM_194248.3(OTOF):c.3894+22G>A rs2272072
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.4091G>T (p.Gly1364Val) rs138037294
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111
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.4341G>A (p.Glu1447=) rs80214437
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
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.4483C>A (p.Arg1495=) rs147321712
NM_194248.3(OTOF):c.4484G>A (p.Arg1495Gln)
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478
NM_194248.3(OTOF):c.4629-9C>T rs72853726
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000
NM_194248.3(OTOF):c.4894C>A (p.Pro1632Thr) rs749332831
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393
NM_194248.3(OTOF):c.5083G>T (p.Asp1695Tyr) rs144422709
NM_194248.3(OTOF):c.509+10A>G rs76712142
NM_194248.3(OTOF):c.5097C>T (p.Ile1699=) rs12386239
NM_194248.3(OTOF):c.5160G>A (p.Thr1720=) rs142796386
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.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329
NM_194248.3(OTOF):c.5581del (p.Ala1861fs) rs1572399804
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103
NM_194248.3(OTOF):c.5694C>T (p.Asn1898=) rs1318486079
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049
NM_194248.3(OTOF):c.5820C>T (p.Pro1940=) rs765678871
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752
NM_194248.3(OTOF):c.600G>A (p.Leu200=) rs756952748
NM_194248.3(OTOF):c.633G>C (p.Arg211=) rs1572456253
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403
NM_194248.3(OTOF):c.710+10C>T rs55639868
NM_194248.3(OTOF):c.791G>A (p.Arg264Gln)
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682
NM_194248.3(OTOF):c.898-6C>G rs199687628
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208

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