ClinVar Miner

List of variants in gene OTOF reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP
NM_194248.3(OTOF):c.*105C>T rs145899319
NM_194248.3(OTOF):c.*126G>A rs73920281
NM_194248.3(OTOF):c.*18-4C>T
NM_194248.3(OTOF):c.*341G>A rs549185736
NM_194248.3(OTOF):c.*348G>T
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.*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.-43T>A rs201812205
NM_194248.3(OTOF):c.-54G>A rs571817012
NM_194248.3(OTOF):c.-64G>A rs886055881
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.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.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.1317T>C (p.Asn439=) rs201171459
NM_194248.3(OTOF):c.1350C>G (p.Asp450Glu)
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
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.154G>A (p.Val52Met) rs199992845
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.1630C>T (p.Arg544Cys) rs139954767
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002
NM_194248.3(OTOF):c.1803+13G>A rs886055878
NM_194248.3(OTOF):c.1882G>A (p.Asp628Asn)
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)
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.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.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.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359
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.2419C>A (p.Gln807Lys)
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
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.2605G>T (p.Asp869Tyr) rs886055877
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser)
NM_194248.3(OTOF):c.2676+10G>C rs727503356
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474
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.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.2928C>T (p.Asp976=)
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941
NM_194248.3(OTOF):c.2983T>C (p.Cys995Arg)
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala)
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.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.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.3599C>T (p.Pro1200Leu) rs762316974
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.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.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.4092C>G (p.Gly1364=) rs779854387
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.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
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.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.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.4642G>A (p.Glu1548Lys) rs146982209
NM_194248.3(OTOF):c.4773C>A (p.Thr1591=)
NM_194248.3(OTOF):c.4800-11C>T rs41286009
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000
NM_194248.3(OTOF):c.4908G>A (p.Val1636=)
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile)
NM_194248.3(OTOF):c.494A>T (p.Glu165Val)
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846
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+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.5193-9T>C rs886055875
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.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.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=)
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)
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.5523C>T (p.Asp1841=) rs145894536
NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly)
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329
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.5702T>C (p.Phe1901Ser)
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.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.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.710+10C>T rs55639868
NM_194248.3(OTOF):c.731T>C (p.Met244Thr)
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.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

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