ClinVar Miner

List of variants in gene USH2A reported as benign for Usher syndrome type 2A

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.4082-66A>C rs386851 0.90510
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.10388-27T>C rs7518466 0.59567
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_206933.4(USH2A):c.3157+35G>A rs1324330 0.54884
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_206933.4(USH2A):c.11390-55C>T rs4053764 0.41199
NM_206933.4(USH2A):c.848+103C>G rs1339963 0.38613
NM_206933.4(USH2A):c.10585+143A>C rs6665799 0.36073
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.8559-65T>C rs7518358 0.23802
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_206933.4(USH2A):c.4082-44G>A rs447102 0.17427
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_206933.4(USH2A):c.4628-63C>T rs7540411 0.13052
NM_206933.4(USH2A):c.11389+9A>T rs12095085 0.12571
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_206933.4(USH2A):c.6957+19A>G rs6689120 0.09761
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_206933.4(USH2A):c.11390-53C>T rs6540907 0.07479
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_206933.4(USH2A):c.652-80T>C rs45594833 0.05185
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_206933.4(USH2A):c.8681+120G>A rs56301415 0.04758
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_206933.4(USH2A):c.7300+43C>T rs41277206 0.04068
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_206933.4(USH2A):c.7300+29A>G rs41277208 0.02225
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_206933.4(USH2A):c.8682-53A>G rs115882431 0.01767
NM_206933.4(USH2A):c.5857+17A>C rs74766738 0.01694
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_206933.4(USH2A):c.8681+18A>G rs41277198 0.01418
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.7301-65C>T rs41277204 0.01115
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.8558+40C>A rs55713064 0.00762
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_206933.4(USH2A):c.9959-11T>G rs116150014 0.00724
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707 0.00683
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305 0.00441
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) rs111033505 0.00418
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872 0.00393
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_206933.4(USH2A):c.6486-18G>A rs370809079 0.00118
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_206933.4(USH2A):c.785-16_785-15del rs150209313 0.00051
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669 0.00013
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435 0.00004
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.4(USH2A):c.11389+14del rs79494833
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.12067-31del rs5780842
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.1328+37_1328+40del rs145313346
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.3317-25dup rs376363548
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.4627+48A>T rs74874838
NM_206933.4(USH2A):c.5573-34del rs35944387
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.7121-14del rs536181325

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