ClinVar Miner

List of variants in gene USH2A reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.3157+254G>A rs419767 0.97061
NM_206933.4(USH2A):c.11389+233A>G rs2820730 0.96609
NM_206933.4(USH2A):c.6486-185C>T rs1436780 0.94448
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.11231+259A>C rs1832951 0.64726
NM_206933.4(USH2A):c.11048-275G>A rs2797227 0.63968
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_206933.4(USH2A):c.11712-261C>A rs10864191 0.62145
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.9958+4171T>C rs10746458 0.60755
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.8845+382A>G rs2147912 0.44373
NM_206933.4(USH2A):c.9958+246A>C rs11120635 0.41458
NM_206933.4(USH2A):c.11390-55C>T rs4053764 0.41199
NM_206933.4(USH2A):c.11390-264A>G rs138065808 0.41099
NM_206933.4(USH2A):c.8681+315A>G rs11120686 0.40878
NM_206933.4(USH2A):c.9259-347C>A rs1934429 0.39436
NM_206933.4(USH2A):c.848+103C>G rs1339963 0.38613
NM_206933.4(USH2A):c.4457= (p.Arg1486=) rs1805049 0.37586
NM_206933.4(USH2A):c.9371+245C>T rs2027355 0.37303
NM_206933.4(USH2A):c.6163+155G>A rs10864227 0.36644
NM_206933.4(USH2A):c.10585+267A>G rs12122543 0.36615
NM_206933.4(USH2A):c.10585+211A>G rs12122550 0.36576
NM_206933.4(USH2A):c.10586-196_10586-195dup rs35071811 0.36528
NM_206933.4(USH2A):c.10585+143A>C rs6665799 0.36073
NM_206933.4(USH2A):c.10183-260A>C rs11804198 0.35233
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_206933.4(USH2A):c.6317= (p.Ile2106=) rs6657250 0.32217
NM_206933.4(USH2A):c.1550+196del rs34476340 0.31106
NM_206933.4(USH2A):c.1644+34A>C rs7515253 0.28314
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.1551-82T>C rs2089947 0.27687
NM_206933.4(USH2A):c.11711+71A>T rs6694510 0.25144
NM_206933.4(USH2A):c.12612= (p.Thr4204=) rs2797235 0.25079
NM_206933.4(USH2A):c.2168-282C>A rs404925 0.24585
NM_206933.4(USH2A):c.8559-65T>C rs7518358 0.23802
NM_206933.4(USH2A):c.2810-294G>T rs378340 0.22653
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.5857+187C>T rs17026017 0.20231
NM_206933.4(USH2A):c.1550+194del rs1558037540 0.19359
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_206933.4(USH2A):c.12294+134C>T rs10864183 0.19091
NM_206933.4(USH2A):c.9959-330G>C rs11120630 0.18898
NM_206933.4(USH2A):c.12295-86G>C rs4443864 0.18868
NM_206933.4(USH2A):c.12067-117T>C rs12140451 0.18044
NM_206933.4(USH2A):c.7595-2445G>A rs7546633 0.17906
NM_206933.4(USH2A):c.4082-44G>A rs447102 0.17427
NM_206933.4(USH2A):c.8224-109T>C rs6669557 0.17227
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.11548+98G>A rs2797223 0.15365
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_206933.4(USH2A):c.7595-1906T>A rs12741197 0.13453
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.9740-259T>C rs11120637 0.11884
NM_206933.4(USH2A):c.8223+203T>C rs6682313 0.11122
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_206933.4(USH2A):c.1143+173C>G rs34319905 0.09953
NM_206933.4(USH2A):c.6957+19A>G rs6689120 0.09761
NM_206933.4(USH2A):c.15052+171T>G rs111756158 0.09047
NM_206933.4(USH2A):c.9571-268T>G rs12037735 0.09034
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.-205+226T>C rs11804470 0.07330
NM_206933.4(USH2A):c.7594+22C>T rs12401812 0.06862
NM_206933.4(USH2A):c.9959-4233A>G rs17025432 0.06729
NM_206933.4(USH2A):c.9959-343C>A rs77704873 0.06557
NM_206933.4(USH2A):c.10741-223G>A rs17025416 0.06547
NM_206933.4(USH2A):c.11231+45C>T rs17025373 0.06476
NM_206933.4(USH2A):c.1971+198A>G rs17597445 0.06401
NM_206933.4(USH2A):c.14968+239C>T rs61828161 0.06374
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.11390-69C>T rs1433750839 0.06133
NM_206933.4(USH2A):c.11390-101_11390-95del rs1558078781 0.06041
NM_206933.4(USH2A):c.2993+146A>G rs111939369 0.05978
NM_206933.4(USH2A):c.7595-308A>C rs74372467 0.05625
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_206933.4(USH2A):c.4885+267G>A rs56158322 0.05212
NM_206933.4(USH2A):c.652-80T>C rs45594833 0.05185
NM_206933.4(USH2A):c.14583-359T>C rs6665928 0.05170
NM_206933.4(USH2A):c.1645-170G>A rs12097757 0.05105
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_206933.4(USH2A):c.5573-1005_5573-1004insG rs200690979 0.05077
NM_206933.4(USH2A):c.11548+283G>A rs11811012 0.05035
NM_206933.4(USH2A):c.5573-1003_5573-997del rs375161723 0.04988
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.14582+196C>T rs74141284 0.04779
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.15520-194A>T rs75244763 0.04699
NM_206933.4(USH2A):c.4628-261G>A rs12065013 0.04660
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_206933.4(USH2A):c.11712-325T>C rs59307713 0.04415
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_206933.4(USH2A):c.11711+245G>T rs956761 0.04398
NM_206933.4(USH2A):c.11712-104A>T rs58156538 0.04393
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_206933.4(USH2A):c.7594+128C>A rs56074952 0.04300
NM_206933.4(USH2A):c.11231+199G>A rs55908750 0.04179
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_206933.4(USH2A):c.6958-132G>A rs12069955 0.04149
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.6325+114G>C rs6693284 0.03732
NM_206933.4(USH2A):c.5298+188T>G rs3925007 0.03704
NM_206933.4(USH2A):c.9958+128A>G rs12129576 0.03566
NM_206933.4(USH2A):c.9958+69C>T rs12132110 0.03561
NM_206933.4(USH2A):c.9372-196A>T rs12137445 0.03559
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_206933.4(USH2A):c.*49A>C rs7531580 0.03276
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_206933.4(USH2A):c.9958+4175G>A rs59434539 0.03225
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_206933.4(USH2A):c.849-247T>C rs6679594 0.03212
NM_206933.4(USH2A):c.14133+234C>G rs79396107 0.03167
NM_206933.4(USH2A):c.7594+143G>A rs74605223 0.03163
NM_206933.4(USH2A):c.7594+194G>A rs76798933 0.03158
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_206933.4(USH2A):c.6658-273C>T rs75102399 0.03028
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_206933.4(USH2A):c.5573-1052C>T rs75464348 0.02787
NM_206933.4(USH2A):c.5298+82C>A rs80000884 0.02649
NM_206933.4(USH2A):c.4987+200C>T rs79965279 0.02617
NM_206933.4(USH2A):c.9571-216G>A rs78673581 0.02511
NM_206933.4(USH2A):c.12067-297T>G rs78089712 0.02405
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_206933.4(USH2A):c.*243G>T rs74400441 0.02343
NM_206933.4(USH2A):c.10939+182G>A rs7513974 0.02309
NM_206933.4(USH2A):c.12295-128A>T rs78481559 0.02278
NM_206933.4(USH2A):c.13811+72G>A rs74527030 0.02277
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_206933.4(USH2A):c.15519+23G>A rs115058075 0.02194
NM_206933.4(USH2A):c.14968+80C>G rs79812583 0.02167
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.9958+273G>A rs17025444 0.01973
NM_206933.4(USH2A):c.9958+162T>C rs17025446 0.01971
NM_206933.4(USH2A):c.784+162del rs67328101 0.01970
NM_206933.4(USH2A):c.9740-202T>C rs11120636 0.01970
NM_206933.4(USH2A):c.4988-287T>A rs113105601 0.01921
NM_206933.4(USH2A):c.4628-136A>G rs74482152 0.01917
NM_206933.4(USH2A):c.6657+29C>A rs79726287 0.01908
NM_206933.4(USH2A):c.6657+200G>T rs185960266 0.01906
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_206933.4(USH2A):c.9571-127G>A rs17025459 0.01885
NM_206933.4(USH2A):c.4886-234C>T rs76671404 0.01874
NM_206933.4(USH2A):c.1645-257C>T rs73098672 0.01860
NM_206933.4(USH2A):c.9739+88C>T rs73090717 0.01859
NM_206933.4(USH2A):c.8682-53A>G rs115882431 0.01767
NM_206933.4(USH2A):c.4397-327G>A rs78039241 0.01766
NM_206933.4(USH2A):c.11390-83T>C rs7551300 0.01723
NM_206933.4(USH2A):c.6049+37C>T rs17026013 0.01707
NM_206933.4(USH2A):c.9959-4301T>C rs79312944 0.01698
NM_206933.4(USH2A):c.5857+17A>C rs74766738 0.01694
NM_206933.4(USH2A):c.4251+57del rs141989167 0.01673
NM_206933.4(USH2A):c.1551-233A>C rs114503733 0.01577
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.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.15297+57T>C rs79341918 0.00919
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_206933.4(USH2A):c.4397-92A>G rs12119519 0.00823
NM_206933.4(USH2A):c.1971+85G>A rs12123574 0.00811
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.10851C>T (p.Asn3617=) rs12073994 0.00488
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.6077A>G (p.Lys2026Arg) rs115039883 0.00438
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.12817T>C (p.Tyr4273His) rs79654794 0.00408
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.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_206933.4(USH2A):c.14968+56C>T rs56957283 0.00359
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
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.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
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.4560C>T (p.Ile1520=) rs148000219 0.00234
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.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_206933.4(USH2A):c.15053-18T>G rs138178390 0.00155
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
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.2256T>C (p.His752=) rs111033281 0.00103
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_206933.4(USH2A):c.3157+12C>T rs199853422 0.00088
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) rs149570469 0.00057
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
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.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.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) rs200243588 0.00026
NM_206933.4(USH2A):c.12315C>T (p.Asp4105=) rs755072275 0.00024
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
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.15053-4G>T rs753732714 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.4627+7985C>T rs563981453 0.00013
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) rs368327746 0.00013
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 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_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.6958-5C>T rs147914083 0.00010
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 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.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.10183-12C>T rs747413632 0.00002
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=) rs113805451 0.00001
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=) rs113716139 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
GRCh37/hg19 1q41(chr1:215859895-215861469)x1
GRCh37/hg19 1q41(chr1:215859895-215861572)x1
GRCh37/hg19 1q41(chr1:215859895-215863578)x1
GRCh37/hg19 1q41(chr1:215860464-215863578)x1
GRCh37/hg19 1q41(chr1:215936900-216115708)x1
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.10182+27C>T rs11120629
NM_206933.4(USH2A):c.10388-11dup rs770615998
NM_206933.4(USH2A):c.10939+19del rs751350899
NM_206933.4(USH2A):c.10939+19dup rs751350899
NM_206933.4(USH2A):c.1093C>T (p.Leu365Phe) rs531691537
NM_206933.4(USH2A):c.11232-321C>G rs10864196
NM_206933.4(USH2A):c.11389+12_11389+14del rs79494833
NM_206933.4(USH2A):c.11389+13_11389+14dup rs79494833
NM_206933.4(USH2A):c.11389+14del rs79494833
NM_206933.4(USH2A):c.11389+308del rs34577448
NM_206933.4(USH2A):c.11389+3dup rs79494833
NM_206933.4(USH2A):c.11390-24CT[10] rs140003076
NM_206933.4(USH2A):c.11390-24CT[11] rs140003076
NM_206933.4(USH2A):c.11390-24CT[8] rs140003076
NM_206933.4(USH2A):c.11390-52AT[11] rs376081393
NM_206933.4(USH2A):c.11390-52AT[13] rs376081393
NM_206933.4(USH2A):c.11390-52AT[9] rs376081393
NM_206933.4(USH2A):c.11390-74_11390-73insATATATAT rs1189390760
NM_206933.4(USH2A):c.11390-77C>G rs371129778
NM_206933.4(USH2A):c.11390-79C>T rs376300286
NM_206933.4(USH2A):c.11390-81C>T rs377724243
NM_206933.4(USH2A):c.11390-82_11390-81insATAC rs1491186893
NM_206933.4(USH2A):c.11390-82_11390-81insATACAC rs1491186893
NM_206933.4(USH2A):c.11390-93TA[7] rs1263179301
NM_206933.4(USH2A):c.1144-28A>C rs2102654460
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.11549-6_11549-5del rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.12066+305del rs35895995
NM_206933.4(USH2A):c.12067-182C>G rs4375237
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.13857A>G (p.Ser4619=) rs373694614
NM_206933.4(USH2A):c.14134-53del rs371744542
NM_206933.4(USH2A):c.14134-68dup rs371744542
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.14792-111del rs56212994
NM_206933.4(USH2A):c.14792-128dup rs56212994
NM_206933.4(USH2A):c.14792-67del rs371387260
NM_206933.4(USH2A):c.14969-261G>A rs75547520
NM_206933.4(USH2A):c.15052+151G>T rs540701486
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.1550+172TA[10] rs67957139
NM_206933.4(USH2A):c.1550+172TA[11] rs67957139
NM_206933.4(USH2A):c.1550+172TA[12] rs67957139
NM_206933.4(USH2A):c.1550+172TA[9] rs67957139
NM_206933.4(USH2A):c.15520-4dup rs1456785856
NM_206933.4(USH2A):c.1644+14dup
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.1645-8dup rs763490382
NM_206933.4(USH2A):c.2168-20del
NM_206933.4(USH2A):c.2168-9dup rs1431123329
NM_206933.4(USH2A):c.2993+94dup rs142795742
NM_206933.4(USH2A):c.3158-284_3158-283del rs33954636
NM_206933.4(USH2A):c.3317-12dup rs774403089
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.3317-25dup rs376363548
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=) rs376090043
NM_206933.4(USH2A):c.4081+17del
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.4627+10935T>C rs2102631193
NM_206933.4(USH2A):c.4627+2086T>G rs2102638826
NM_206933.4(USH2A):c.4627+367C>T rs2034343668
NM_206933.4(USH2A):c.4627+4029G>A rs2034270661
NM_206933.4(USH2A):c.4627+5605A>C rs2102635849
NM_206933.4(USH2A):c.4627+6877A>G rs1274789192
NM_206933.4(USH2A):c.4627+7319A>G rs2102634320
NM_206933.4(USH2A):c.4627+7818C>T rs2102633856
NM_206933.4(USH2A):c.4627+8039T>C rs2102633629
NM_206933.4(USH2A):c.4627+9599A>G rs2102632230
NM_206933.4(USH2A):c.4627+9916T>C rs2102632005
NM_206933.4(USH2A):c.486-147A>G rs17026722
NM_206933.4(USH2A):c.486-17del
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile) rs768619553
NM_206933.4(USH2A):c.5167+15A>C rs533195236
NM_206933.4(USH2A):c.5299-15dup rs778186770
NM_206933.4(USH2A):c.5573-1050GA[11] rs35866358
NM_206933.4(USH2A):c.5573-1050GA[12] rs35866358
NM_206933.4(USH2A):c.5573-1050GA[14] rs35866358
NM_206933.4(USH2A):c.5573-1050GA[9] rs35866358
NM_206933.4(USH2A):c.5573-34del rs35944387
NM_206933.4(USH2A):c.5573-578C>A rs17026031
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.652-24A>T rs2102708750
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=) rs560847831
NM_206933.4(USH2A):c.6657+100del rs140899702
NM_206933.4(USH2A):c.6657+123G>A rs28588034
NM_206933.4(USH2A):c.6657+202dup rs138109851
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6806-117_6806-116del rs10569124
NM_206933.4(USH2A):c.7120+13del
NM_206933.4(USH2A):c.7121-14del rs536181325
NM_206933.4(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.4(USH2A):c.750A>C (p.Ala250=) rs1249830634
NM_206933.4(USH2A):c.7595-110del rs75163086
NM_206933.4(USH2A):c.7595-2420C>T rs12408624
NM_206933.4(USH2A):c.8681+3G>A rs541719977
NM_206933.4(USH2A):c.8682-12del
NM_206933.4(USH2A):c.8682-19del
NM_206933.4(USH2A):c.8682-25dup rs781675282
NM_206933.4(USH2A):c.8845+507A>C rs114024937
NM_206933.4(USH2A):c.8846-52del rs77889398
NM_206933.4(USH2A):c.8846-53_8846-52del rs77889398
NM_206933.4(USH2A):c.9259-19dup
NM_206933.4(USH2A):c.9372-105AT[7] rs10632923
NM_206933.4(USH2A):c.9958+8del rs1226212384

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