ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 9 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
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.5039G>A (p.Arg1680His) rs11893228 0.00337
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.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
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.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.5038C>T (p.Arg1680Cys) rs147070644 0.00044
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.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_194248.3(OTOF):c.*714A>T rs868381441 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.2252C>T (p.Thr751Met) rs727503359 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.5091G>A (p.Pro1697=) rs373568741 0.00018
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.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
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.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.-64G>A rs886055881 0.00007
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.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.2419C>A (p.Gln807Lys) rs750423841 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 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.*769G>C rs1157863176 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.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.*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.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.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.654C>T (p.Pro218=) rs761399081 0.00002
NM_194248.3(OTOF):c.*770T>A rs886055872 0.00001
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.1350C>G (p.Asp450Glu) rs779693261 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.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.3230A>G (p.Gln1077Arg) rs749183807 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.4195G>A (p.Glu1399Lys) rs777285104 0.00001
NM_194248.3(OTOF):c.5193-9T>C rs886055875 0.00001
NM_194248.3(OTOF):c.5650A>G (p.Lys1884Glu) rs886055873 0.00001
NM_194248.3(OTOF):c.576A>G (p.Gln192=) rs886055880 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.670G>T (p.Ala224Ser) rs756684403 0.00001
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.1227G>C (p.Gly409=) rs886055879
NM_194248.3(OTOF):c.1803+13G>A rs886055878
NM_194248.3(OTOF):c.2029G>C (p.Gly677Arg) rs781547633
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
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.2928C>T (p.Asp976=) rs534758736
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) rs572579351
NM_194248.3(OTOF):c.3409-2A>C rs201613240
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.4509C>A (p.Asp1503Glu) rs1335296783
NM_194248.3(OTOF):c.4628+5G>C rs1664706577
NM_194248.3(OTOF):c.4773C>A (p.Thr1591=) rs1664691704
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.5040C>T (p.Arg1680=) rs1664608827
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5097C>G (p.Ile1699Met) rs12386239
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr) rs555613193
NM_194248.3(OTOF):c.5440A>G (p.Met1814Val) rs886055874
NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly) rs770709835
NM_194248.3(OTOF):c.731T>C (p.Met244Thr) rs1666121138
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836

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