ClinVar Miner

List of variants in gene OTOF studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.711-49A>C rs6547079 0.64250
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_194248.3(OTOF):c.509+39A>T rs7575020 0.51850
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_194248.3(OTOF):c.510-39C>T rs884390 0.30697
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.*696A>G rs55744034 0.04838
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_194248.3(OTOF):c.*697G>A rs60182448 0.04365
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03772
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03615
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03607
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03343
NM_194248.3(OTOF):c.*650C>A rs57941637 0.03295
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02362
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01603
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_194248.3(OTOF):c.-113G>A rs79734645 0.01288
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_194248.3(OTOF):c.*440T>C rs112949167 0.00865
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00684
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_194248.3(OTOF):c.*341G>A rs549185736 0.00435
NM_194248.3(OTOF):c.*220C>T rs72853716 0.00356
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.-91G>A rs139010880 0.00221
NM_194248.3(OTOF):c.509+11G>A rs200010052 0.00196
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.-43T>A rs201812205 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.-89C>T rs576242306 0.00030
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln) rs149701372 0.00026
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.*714A>T rs868381441 0.00024
NM_194248.3(OTOF):c.327+5G>T rs370643920 0.00024
NM_194248.3(OTOF):c.783C>T (p.Ile261=) rs556182666 0.00024
NM_194248.3(OTOF):c.-54G>A rs571817012 0.00023
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) rs199603169 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=) rs777088497 0.00007
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474 0.00006
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565 0.00005
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 0.00005
NM_194248.3(OTOF):c.*610C>T rs376374054 0.00004
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) rs750423841 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.4092C>G (p.Gly1364=) rs779854387 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile) rs146552124 0.00004
NM_194248.3(OTOF):c.5460C>T (p.Thr1820=) rs148749290 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_194248.3(OTOF):c.*769G>C rs1157863176 0.00003
NM_194248.3(OTOF):c.*770T>A rs886055872 0.00003
NM_194248.3(OTOF):c.-64G>A rs886055881 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.2605G>T (p.Asp869Tyr) rs886055877 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_194248.3(OTOF):c.4908G>A (p.Val1636=) rs769992835 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.660G>A (p.Ser220=) rs745785393 0.00003
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter) rs145208539 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_194248.3(OTOF):c.*898C>A rs886055871 0.00002
NM_194248.3(OTOF):c.-73G>A rs550236431 0.00002
NM_194248.3(OTOF):c.1117G>A (p.Val373Met) rs561112634 0.00002
NM_194248.3(OTOF):c.1206-10G>A rs769631334 0.00002
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444 0.00002
NM_194248.3(OTOF):c.1489G>A (p.Val497Met) rs144012583 0.00002
NM_194248.3(OTOF):c.1579+9C>T rs770761461 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.3481G>A (p.Glu1161Lys) rs758983524 0.00002
NM_194248.3(OTOF):c.4377G>T (p.Val1459=) rs374209343 0.00002
NM_194248.3(OTOF):c.4581C>T (p.Arg1527=) rs560125081 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.494A>T (p.Glu165Val) rs202011111 0.00002
NM_194248.3(OTOF):c.510-9C>A rs199789769 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.5702T>C (p.Phe1901Ser) rs200182894 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_194248.3(OTOF):c.654C>T (p.Pro218=) rs761399081 0.00002
NM_194248.3(OTOF):c.*867C>T rs578132477 0.00001
NM_194248.3(OTOF):c.*936G>A rs556660734 0.00001
NM_194248.3(OTOF):c.1045+4A>G rs754376415 0.00001
NM_194248.3(OTOF):c.1100C>T (p.Ser367Leu) rs200985159 0.00001
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582 0.00001
NM_194248.3(OTOF):c.1350C>G (p.Asp450Glu) rs779693261 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) rs397515435 0.00001
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682 0.00001
NM_194248.3(OTOF):c.21C>A (p.Leu7=) rs545316807 0.00001
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) rs773354262 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2807T>A (p.Val936Asp) rs758010380 0.00001
NM_194248.3(OTOF):c.2871G>A (p.Lys957=) rs1488516129 0.00001
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.2991+1G>A rs80356594 0.00001
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.3230A>G (p.Gln1077Arg) rs749183807 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.3599C>T (p.Pro1200Leu) rs762316974 0.00001
NM_194248.3(OTOF):c.3662A>G (p.His1221Arg) rs1665081236 0.00001
NM_194248.3(OTOF):c.3749G>A (p.Arg1250His) rs755411269 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile) rs397515600 0.00001
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) rs777285104 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) rs397515603 0.00001
NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr) rs760176622 0.00001
NM_194248.3(OTOF):c.4960G>A (p.Gly1654Ser) rs1005694756 0.00001
NM_194248.3(OTOF):c.5193-9T>C rs886055875 0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5650A>G (p.Lys1884Glu) rs886055873 0.00001
NM_194248.3(OTOF):c.5712+1G>A rs80356604 0.00001
NM_194248.3(OTOF):c.591G>A (p.Pro197=) rs779916426 0.00001
NM_194248.3(OTOF):c.611A>C (p.Asp204Ala) rs756388245 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 0.00001
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
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];[5193-1G>A]
NM_194248.3(OTOF):c.*18-4C>T rs1664280618
NM_194248.3(OTOF):c.*348G>T rs112312933
NM_194248.3(OTOF):c.*474C>T rs1664255863
NM_194248.3(OTOF):c.*812C>T rs139652991
NM_194248.3(OTOF):c.*898dup rs111964688
NM_194248.3(OTOF):c.-110AGG[3] rs886055882
NM_194248.3(OTOF):c.1045+2T>G rs111033341
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.1126G>A (p.Asp376Asn)
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.1180dup (p.Glu394fs) rs397515580
NM_194248.3(OTOF):c.1227G>C (p.Gly409=) rs886055879
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs) rs2148060432
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1538A>G (p.His513Arg)
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
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.1579+1G>A
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.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1696C>T (p.Arg566Trp) rs760584389
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg) rs397515586
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.1804-2A>G rs2148056311
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu) rs397515589
NM_194248.3(OTOF):c.1886dup (p.Pro630fs) rs80356588
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.1912+5G>C rs2148056188
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs) rs1553353527
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_194248.3(OTOF):c.1962dup (p.Pro655fs) rs751564248
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.2029G>C (p.Gly677Arg) rs781547633
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+1G>T rs80356589
NM_194248.3(OTOF):c.2214+5G>C
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter) rs397515592
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2406+4A>G rs2148051765
NM_194248.3(OTOF):c.2407-2del
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.2499_2500insT (p.Lys834Ter)
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) rs2148050495
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter) rs397515593
NM_194248.3(OTOF):c.2656del (p.Val886fs)
NM_194248.3(OTOF):c.2676G>A (p.Lys892=) rs2148050346
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs) rs397515594
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs) rs397515595
NM_194248.3(OTOF):c.2750G>A (p.Gly917Asp) rs1218641736
NM_194248.3(OTOF):c.2788C>G (p.Pro930Ala) rs746541787
NM_194248.3(OTOF):c.2866+1G>A rs2148047884
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
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.2928C>T (p.Asp976=) rs534758736
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.2985C>A (p.Cys995Ter) rs2148047301
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) rs1558482554
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala) rs1665210196
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs) rs773708510
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro) rs397515598
NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) rs2148044809
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu) rs370609551
NM_194248.3(OTOF):c.3289-1G>C
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.3305A>G (p.Lys1102Arg)
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) rs572579351
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
NM_194248.3(OTOF):c.3571-2A>C rs80356597
NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4033CAA[1] (p.Gln1346del)
NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)
NM_194248.3(OTOF):c.4228-1G>T
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.4351G>T (p.Gly1451Ter) rs397515602
NM_194248.3(OTOF):c.4362+1G>C rs1274464930
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) rs797044816
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.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.4500+2T>G rs80356599
NM_194248.3(OTOF):c.4509C>A (p.Asp1503Glu) rs1335296783
NM_194248.3(OTOF):c.4541A>G (p.Asp1514Gly) rs2148028248
NM_194248.3(OTOF):c.4628+5G>C rs1664706577
NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu) rs2148027757
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4773C>A (p.Thr1591=) rs1664691704
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met) rs80356579
NM_194248.3(OTOF):c.4885del (p.His1629fs) rs2148026336
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs) rs397515604
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr) rs555613193
NM_194248.3(OTOF):c.5291+5G>A
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp) rs2148020419
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.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5440A>G (p.Met1814Val) rs886055874
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.5534-2A>G rs1664440809
NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly) rs770709835
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) rs2148018483
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp) rs80356583
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter) rs953404925
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
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.62C>T (p.Ala21Val) rs2148144145
NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)
NM_194248.3(OTOF):c.669del (p.Ala224fs) rs2148078546
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.731T>C (p.Met244Thr) rs1666121138
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
NM_194248.3(OTOF):c.765G>C (p.Gln255His) rs397515611
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.897+1G>T rs483353049
NM_194248.3(OTOF):c.897+5G>A rs1553356452
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg) rs121908598
NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg) rs1157997148

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