ClinVar Miner

List of variants in gene OTOF reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.1804-190T>C rs6719195 0.98509
NM_194248.3(OTOF):c.227+143A>G rs10865425 0.94999
NM_194248.3(OTOF):c.509+282G>A rs4665867 0.89028
NM_194248.3(OTOF):c.328-313G>A rs11126533 0.85321
NM_194248.3(OTOF):c.227+55C>T rs1879760 0.69284
NM_194248.3(OTOF):c.711-49A>C rs6547079 0.64250
NM_194248.3(OTOF):c.897+169T>C rs939814 0.62444
NM_194248.3(OTOF):c.2214+319A>G rs1815040 0.62280
NM_194248.3(OTOF):c.3126+208C>G rs4427975 0.61761
NM_194248.3(OTOF):c.2215-291G>C rs6749978 0.58647
NM_194248.3(OTOF):c.4090+252A>G rs4665326 0.57421
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.1206-126A>G rs4665328 0.46895
NM_194248.3(OTOF):c.3126+277C>T rs4458167 0.42252
NM_194248.3(OTOF):c.3864+244T>C rs6743467 0.38510
NM_194248.3(OTOF):c.2991+100C>A rs6712188 0.38424
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_194248.3(OTOF):c.80-281G>A rs1522100 0.34814
NM_194248.3(OTOF):c.79+114C>G rs4665880 0.33988
NM_194248.3(OTOF):c.4023+246A>G rs34796712 0.33736
NC_000002.12:g.26558897G>A rs7556908 0.32523
NM_194248.3(OTOF):c.227+280G>C rs56246466 0.31748
NM_194248.3(OTOF):c.510-39C>T rs884390 0.30697
NM_194248.3(OTOF):c.766-238G>A rs34780859 0.30282
NM_194248.3(OTOF):c.765+180T>C rs7589019 0.25006
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_194248.3(OTOF):c.4500+317G>A rs7576373 0.21767
NM_194248.3(OTOF):c.1045+250G>T rs12052886 0.19409
NM_194248.3(OTOF):c.2214+50C>T rs61323419 0.11888
NM_194248.3(OTOF):c.710+123A>G rs7592534 0.11717
NM_194248.3(OTOF):c.*17+230A>G rs4416176 0.10990
NM_194248.3(OTOF):c.3894+22G>A rs2272072 0.08941
NM_194248.3(OTOF):c.328-59T>C rs55682147 0.08624
NM_194248.3(OTOF):c.5533+67G>A rs2280512 0.08003
NM_194248.3(OTOF):c.1205+209T>C rs10184906 0.07691
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.79+250C>T rs10177332 0.07338
NM_194248.3(OTOF):c.2406+36G>A rs56284635 0.06680
NM_194248.3(OTOF):c.5534-108A>G rs9808099 0.06482
NM_194248.3(OTOF):c.1046-92A>T rs55763868 0.06437
NM_194248.3(OTOF):c.1046-248G>A rs55838869 0.06335
NM_194248.3(OTOF):c.4091-151G>A rs59761427 0.05483
NM_194248.3(OTOF):c.138+28T>G rs13398223 0.05107
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_194248.3(OTOF):c.1393-67C>A rs74802025 0.04606
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.3864+33G>A rs41286015 0.03766
NM_194248.3(OTOF):c.3864+49G>A rs41286013 0.03764
NM_194248.3(OTOF):c.327+70C>A rs78296411 0.03755
NM_194248.3(OTOF):c.4090+94C>T rs56265746 0.03747
NM_194248.3(OTOF):c.139-188C>T rs55970371 0.03704
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.3127-285G>A rs4328596 0.03252
NM_194248.3(OTOF):c.4800-203T>C rs72853723 0.03111
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.328-164T>C rs111736770 0.02469
NM_194248.3(OTOF):c.3734-172G>A rs114834581 0.02432
NM_194248.3(OTOF):c.3865-167C>T rs114410533 0.02428
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_194248.3(OTOF):c.898-102T>C rs78947900 0.02365
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02362
NM_194248.3(OTOF):c.3289-85C>A rs116154138 0.02130
NM_194248.3(OTOF):c.960+141C>G rs41288775 0.02129
NM_194248.3(OTOF):c.*18-30G>A rs72853717 0.02003
NM_194248.3(OTOF):c.4501-139C>A rs73920283 0.01795
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.1580-96C>T rs72853743 0.01662
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01603
NM_194248.3(OTOF):c.4799+16G>A rs60083916 0.01572
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.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
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.3864+40T>C rs74748719 0.00775
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.2215-19C>G rs111033427 0.00434
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283 0.00434
NM_194248.3(OTOF):c.228-16C>T rs147889840 0.00377
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00334
NM_194248.3(OTOF):c.1579+19G>A rs192297517 0.00313
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.1580-7G>T rs116430138 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.37C>T (p.Leu13=) rs76180450 0.00203
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.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_194248.3(OTOF):c.4628+18C>T rs56018216 0.00104
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.2407-17C>T rs111706333 0.00055
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.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln) rs149701372 0.00026
NM_194248.3(OTOF):c.926C>T (p.Pro309Leu) rs574070900 0.00024
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_194248.3(OTOF):c.4799+9G>A rs201679575 0.00020
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
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.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
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.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.3682C>T (p.Arg1228Cys) rs774452184 0.00001
GRCh37/hg19 2p23.3(chr2:26711829-26725045)x1
NC_000002.12:g.26558819TG[9] rs10552648
NM_194248.3(OTOF):c.*17+59_*17+60insACAT rs58898450
NM_194248.3(OTOF):c.1045+52_1045+65del rs71915319
NM_194248.3(OTOF):c.1205+145C>T rs55877994
NM_194248.3(OTOF):c.1393-15T>G
NM_194248.3(OTOF):c.1393-301C>T rs56846135
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1912+17C>T
NM_194248.3(OTOF):c.1967G>A (p.Arg656Gln)
NM_194248.3(OTOF):c.2093+19C>T
NM_194248.3(OTOF):c.2214+74del rs10714255
NM_194248.3(OTOF):c.2215-204_2215-203del rs55806442
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2406+19G>A
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2677-224_2677-213del rs569183061
NM_194248.3(OTOF):c.2733G>A (p.Glu911=)
NM_194248.3(OTOF):c.2773T>C (p.Phe925Leu)
NM_194248.3(OTOF):c.2992-47dup rs552439777
NM_194248.3(OTOF):c.3148C>T (p.Arg1050Trp)
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_194248.3(OTOF):c.340G>A (p.Val114Met)
NM_194248.3(OTOF):c.4332C>A (p.Thr1444=)
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4362+54del rs3215308
NM_194248.3(OTOF):c.4402G>A (p.Val1468Met)
NM_194248.3(OTOF):c.4629-8C>A
NM_194248.3(OTOF):c.4799+218G>A rs58155484
NM_194248.3(OTOF):c.4936C>A (p.Pro1646Thr)
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.510-7del
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5280C>T (p.Ile1760=)
NM_194248.3(OTOF):c.5534-198A>T rs114397533
NM_194248.3(OTOF):c.5712+11dup
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.766-192del rs113467224
NM_194248.3(OTOF):c.897+278_897+279insA rs150805853
NM_194248.3(OTOF):c.897+285_897+286insT rs1553356373
NM_194248.3(OTOF):c.898-6del
NM_194248.3(OTOF):c.898-6dup

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