ClinVar Miner

List of variants in gene OTOF studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 333
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HGVS dbSNP
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.2(OTOF):c.4227+1G>T rs397515601
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.2(OTOF):c.5193-1G>A rs111033373
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
NM_194248.3(OTOF):c.*105C>T rs145899319
NM_194248.3(OTOF):c.*126G>A rs73920281
NM_194248.3(OTOF):c.*164C>G rs121908598
NM_194248.3(OTOF):c.*18-4C>T
NM_194248.3(OTOF):c.*196T>C
NM_194248.3(OTOF):c.*19C>T rs530821443
NM_194248.3(OTOF):c.*20G>A rs201326023
NM_194248.3(OTOF):c.*220C>T
NM_194248.3(OTOF):c.*341G>A rs549185736
NM_194248.3(OTOF):c.*348G>T
NM_194248.3(OTOF):c.*372C>T rs56025829
NM_194248.3(OTOF):c.*440T>C rs112949167
NM_194248.3(OTOF):c.*474C>T
NM_194248.3(OTOF):c.*610C>T
NM_194248.3(OTOF):c.*650C>A rs57941637
NM_194248.3(OTOF):c.*696A>G rs55744034
NM_194248.3(OTOF):c.*697G>A rs60182448
NM_194248.3(OTOF):c.*714A>T
NM_194248.3(OTOF):c.*769G>C
NM_194248.3(OTOF):c.*770T>A rs886055872
NM_194248.3(OTOF):c.*812C>T
NM_194248.3(OTOF):c.*867C>T rs578132477
NM_194248.3(OTOF):c.*898C>A rs886055871
NM_194248.3(OTOF):c.*936G>A
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.-89C>T
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.1100C>T (p.Ser367Leu)
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs) rs397515579
NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg) rs879255246
NM_194248.3(OTOF):c.1117G>A (p.Val373Met)
NM_194248.3(OTOF):c.1135G>A (p.Val379Met)
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.1180dup (p.Glu394fs) rs397515580
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996
NM_194248.3(OTOF):c.1206-10G>A rs769631334
NM_194248.3(OTOF):c.1227G>C (p.Gly409=) rs886055879
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459
NM_194248.3(OTOF):c.1350C>G (p.Asp450Glu)
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
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.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957
NM_194248.3(OTOF):c.1489G>A (p.Val497Met)
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.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635
NM_194248.3(OTOF):c.1579+9C>T
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter) rs397515584
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer) rs397515585
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) rs397515435
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.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg) rs397515586
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002
NM_194248.3(OTOF):c.1740del (p.Ser581fs) rs397515587
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys) rs397515588
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter) rs1558489384
NM_194248.3(OTOF):c.1803+13G>A rs886055878
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu) rs397515589
NM_194248.3(OTOF):c.1882G>A (p.Asp628Asn)
NM_194248.3(OTOF):c.1886dup (p.Pro630fs) rs80356588
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs) rs1553353527
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784
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.2029G>C (p.Gly677Arg)
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682
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.2168G>A (p.Arg723His) rs754009907
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171
NM_194248.3(OTOF):c.21C>A (p.Leu7=)
NM_194248.3(OTOF):c.2214+1G>T rs80356589
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter) rs397515592
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
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.237G>A (p.Gly79=) rs117985483
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys)
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070
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.2498A>T (p.Gln833Leu) rs191568463
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327
NM_194248.3(OTOF):c.2523+5G>A rs201745796
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2605G>T (p.Asp869Tyr) rs886055877
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser)
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter) rs397515593
NM_194248.3(OTOF):c.2676+10G>C rs727503356
NM_194248.3(OTOF):c.2677-2A>G rs1057518840
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs) rs397515594
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760
NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter)
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs) rs397515595
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905
NM_194248.3(OTOF):c.2750G>A (p.Gly917Asp)
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.2829C>T (p.Gly943=) rs73920285
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.2871G>A (p.Lys957=)
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu) rs201329629
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs) rs397515596
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217
NM_194248.3(OTOF):c.2928C>T (p.Asp976=)
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941
NM_194248.3(OTOF):c.2983T>C (p.Cys995Arg)
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) rs1558482554
NM_194248.3(OTOF):c.2991+1G>A rs80356594
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala)
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3127-5G>A
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys)
NM_194248.3(OTOF):c.3230A>G (p.Gln1077Arg) rs749183807
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro) rs397515598
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu) rs370609551
NM_194248.3(OTOF):c.328-11C>T rs369879663
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=)
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln)
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.3481G>A (p.Glu1161Lys)
NM_194248.3(OTOF):c.3571-2A>C rs80356597
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.3662A>G (p.His1221Arg)
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696
NM_194248.3(OTOF):c.3734-10A>C rs73920284
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln)
NM_194248.3(OTOF):c.3749G>A (p.Arg1250His) rs755411269
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr)
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194248.3(OTOF):c.4023+1G>A rs186810296
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4092C>G (p.Gly1364=) rs779854387
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile) rs397515600
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352
NM_194248.3(OTOF):c.4239A>G (p.Lys1413=) rs886055876
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter) rs397515602
NM_194248.3(OTOF):c.4362+1G>C rs1274464930
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met)
NM_194248.3(OTOF):c.4377G>T (p.Val1459=)
NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) rs797044816
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.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs) rs1558472243
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4500+2T>G rs80356599
NM_194248.3(OTOF):c.4509C>A (p.Asp1503Glu)
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601
NM_194248.3(OTOF):c.4581C>T (p.Arg1527=)
NM_194248.3(OTOF):c.4628+5G>C
NM_194248.3(OTOF):c.4629-9C>T rs72853726
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578
NM_194248.3(OTOF):c.4773C>A (p.Thr1591=)
NM_194248.3(OTOF):c.4799+1G>A rs200147906
NM_194248.3(OTOF):c.4800-11C>T rs41286009
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) rs397515603
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met) rs80356579
NM_194248.3(OTOF):c.4908G>A (p.Val1636=)
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile)
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.494A>T (p.Glu165Val)
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs) rs397515604
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228
NM_194248.3(OTOF):c.5040C>T (p.Arg1680=)
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.506G>A (p.Arg169Gln) rs149701372
NM_194248.3(OTOF):c.509+10A>G rs76712142
NM_194248.3(OTOF):c.509+11G>A rs200010052
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=) rs373568741
NM_194248.3(OTOF):c.5097C>G (p.Ile1699Met) rs12386239
NM_194248.3(OTOF):c.510-9C>A
NM_194248.3(OTOF):c.5103+2T>A rs1323329701
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)
NM_194248.3(OTOF):c.5193-9T>C rs886055875
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)
NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr)
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575
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.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys) rs397515606
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=)
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436
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.5466C>G (p.Tyr1822Ter) rs753580324
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536
NM_194248.3(OTOF):c.5534-2A>G
NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly)
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004
NM_194248.3(OTOF):c.5650A>G (p.Lys1884Glu) rs886055873
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp) rs80356583
NM_194248.3(OTOF):c.5702T>C (p.Phe1901Ser)
NM_194248.3(OTOF):c.5712+1G>A rs80356604
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
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.5788G>T (p.Glu1930Ter)
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
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.591G>A (p.Pro197=) rs779916426
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg) rs80356606
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.654C>T (p.Pro218=)
NM_194248.3(OTOF):c.660G>A (p.Ser220=)
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.710+10C>T rs55639868
NM_194248.3(OTOF):c.731T>C (p.Met244Thr)
NM_194248.3(OTOF):c.765G>C (p.Gln255His) rs397515611
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.766-3C>T rs55886964
NM_194248.3(OTOF):c.783C>T (p.Ile261=)
NM_194248.3(OTOF):c.79+12G>A rs201241987
NM_194248.3(OTOF):c.874A>G (p.Thr292Ala)
NM_194248.3(OTOF):c.897+1G>T rs483353049
NM_194248.3(OTOF):c.897+5G>A rs1553356452
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208
OTOF, 1-BP DEL, 1778G
OTOF, IVS5, G-A, +1

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