ClinVar Miner

List of variants in gene USH2A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 425
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HGVS dbSNP
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(chr1:215935660-216115708)x1
GRCh37/hg19 1q41(chr1:215936900-216115708)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216405003-216565051)x1
NC_000001.10:g.(?_215914707)_(215933195_?)dup
NC_000001.10:g.(?_216465507)_(216501006_?)del
NC_000001.11:g.215846121del
NC_000001.11:g.216292378del
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.3812-3_3837dup rs780071028
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.3(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.3(USH2A):c.10062G>C (p.Val3354=) rs200172376
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613
NM_206933.3(USH2A):c.10183-260A>C
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.3(USH2A):c.10318del (p.Ile3440fs)
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10388-17_10388-7del rs1442627890
NM_206933.3(USH2A):c.10413A>G (p.Thr3471=) rs530322386
NM_206933.3(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.3(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.3(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.3(USH2A):c.10497T>C (p.Pro3499=)
NM_206933.3(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.3(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.3(USH2A):c.10585+143A>C
NM_206933.3(USH2A):c.10585+211A>G
NM_206933.3(USH2A):c.10585+267A>G
NM_206933.3(USH2A):c.10609C>T (p.Leu3537Phe) rs138656755
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843
NM_206933.3(USH2A):c.10693T>C (p.Tyr3565His) rs1553261365
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.10741-1G>T rs1064795279
NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.3(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.3(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.3(USH2A):c.10901A>G (p.His3634Arg) rs1553261102
NM_206933.3(USH2A):c.10928A>G (p.His3643Arg)
NM_206933.3(USH2A):c.11013T>G (p.Pro3671=) rs777699434
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11048-275G>A
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11124C>G (p.Pro3708=) rs773828586
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857
NM_206933.3(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.3(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272
NM_206933.3(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789
NM_206933.3(USH2A):c.11231+259A>C
NM_206933.3(USH2A):c.11389+233A>G
NM_206933.3(USH2A):c.11390-52AT[9]
NM_206933.3(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972
NM_206933.3(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.3(USH2A):c.11506C>T (p.Pro3836Ser)
NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11712-261C>A
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.11736G>A (p.Glu3912=) rs56053654
NM_206933.3(USH2A):c.1181C>G (p.Pro394Arg) rs775922302
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.11907A>T (p.Pro3969=) rs61635304
NM_206933.3(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.3(USH2A):c.12067-2A>G rs397517978
NM_206933.3(USH2A):c.12067-4A>G rs1558051325
NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) rs55921307
NM_206933.3(USH2A):c.12122T>C (p.Ile4041Thr) rs1558051246
NM_206933.3(USH2A):c.12128T>G (p.Val4043Gly) rs376528829
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12232_12233GA[1] (p.Asn4079fs) rs398124618
NM_206933.3(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.3(USH2A):c.12271A>G (p.Met4091Val) rs144168442
NM_206933.3(USH2A):c.12273G>A (p.Met4091Ile) rs751834009
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.1228G>T (p.Glu410Ter)
NM_206933.3(USH2A):c.12295-3T>A rs111033518
NM_206933.3(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.3(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017
NM_206933.3(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.3(USH2A):c.12443T>C (p.Leu4148Pro) rs886042767
NM_206933.3(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.3(USH2A):c.12624C>T (p.Asp4208=)
NM_206933.3(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.3(USH2A):c.12794del (p.Gly4265fs)
NM_206933.3(USH2A):c.12817T>C (p.Tyr4273His) rs79654794
NM_206933.3(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.3(USH2A):c.12854G>A (p.Trp4285Ter)
NM_206933.3(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.3(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.3(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.3(USH2A):c.12997C>G (p.Leu4333Val) rs770620234
NM_206933.3(USH2A):c.13004C>A (p.Ala4335Asp) rs771748964
NM_206933.3(USH2A):c.13078A>G (p.Ser4360Gly) rs794727825
NM_206933.3(USH2A):c.13097C>T (p.Ala4366Val) rs727505097
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13198G>T (p.Ala4400Ser)
NM_206933.3(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13297G>T (p.Val4433Leu) rs111033381
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.3(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13586C>T (p.Pro4529Leu) rs754560573
NM_206933.3(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.3(USH2A):c.13695T>G (p.Tyr4565Ter) rs1553252343
NM_206933.3(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.3(USH2A):c.1377T>A (p.Pro459=) rs1064797140
NM_206933.3(USH2A):c.13811+72G>A
NM_206933.3(USH2A):c.13832C>G (p.Ala4611Gly) rs376077079
NM_206933.3(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237
NM_206933.3(USH2A):c.14073C>T (p.Asn4691=) rs370364142
NM_206933.3(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.3(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.3(USH2A):c.1412A>G (p.Tyr471Cys) rs794727938
NM_206933.3(USH2A):c.14175G>A (p.Trp4725Ter) rs886042722
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14226G>A (p.Thr4742=) rs78576418
NM_206933.3(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.3(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.3(USH2A):c.1438G>A (p.Val480Ile) rs138694314
NM_206933.3(USH2A):c.14408T>C (p.Ile4803Thr) rs1056524280
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14454G>A (p.Pro4818=) rs137902779
NM_206933.3(USH2A):c.14481C>T (p.Ala4827=) rs41304083
NM_206933.3(USH2A):c.14500_14501TC[1] (p.Pro4835fs) rs794727830
NM_206933.3(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.3(USH2A):c.14517G>A (p.Thr4839=) rs397517991
NM_206933.3(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.3(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.3(USH2A):c.146T>A (p.Val49Asp) rs1553258115
NM_206933.3(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.3(USH2A):c.14760C>T (p.Ser4920=) rs778669346
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.14832G>T (p.Leu4944Phe) rs556415914
NM_206933.3(USH2A):c.1486A>C (p.Thr496Pro) rs145114473
NM_206933.3(USH2A):c.14960C>T (p.Ala4987Val) rs111033498
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.3(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.3(USH2A):c.1510C>A (p.His504Asn) rs533024548
NM_206933.3(USH2A):c.151A>G (p.Ile51Val) rs886043442
NM_206933.3(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.3(USH2A):c.15238G>T (p.Val5080Leu) rs1558031463
NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.3(USH2A):c.15306C>G (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.15306C>T (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15403del (p.Thr5135fs)
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.3(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.3(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.3(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.3(USH2A):c.1672G>A (p.Asp558Asn) rs1553327490
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.3(USH2A):c.1840+4A>G rs749288291
NM_206933.3(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.3(USH2A):c.1886G>T (p.Gly629Val) rs754159296
NM_206933.3(USH2A):c.1891G>A (p.Asp631Asn)
NM_206933.3(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.2168-282C>A
NM_206933.3(USH2A):c.2169G>A (p.Gly723=)
NM_206933.3(USH2A):c.2202A>G (p.Lys734=) rs1416725341
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2218A>T (p.Asn740Tyr) rs1229489278
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.3(USH2A):c.2416A>G (p.Thr806Ala) rs1057519163
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.3(USH2A):c.2643G>A (p.Gln881=)
NM_206933.3(USH2A):c.2777G>T (p.Arg926Leu) rs146916397
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+2T>A rs1553320397
NM_206933.3(USH2A):c.2810-294G>T
NM_206933.3(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_206933.3(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.3(USH2A):c.2992A>G (p.Arg998Gly) rs794727135
NM_206933.3(USH2A):c.2999A>C (p.Gln1000Pro) rs1486615749
NM_206933.3(USH2A):c.299T>C (p.Leu100Pro) rs1558082163
NM_206933.3(USH2A):c.3004del (p.Cys1002fs)
NM_206933.3(USH2A):c.3086del (p.Gly1029fs) rs886044060
NM_206933.3(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.3(USH2A):c.3157+254G>A
NM_206933.3(USH2A):c.3169C>G (p.Gln1057Glu) rs1558317549
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.3224_3225dup (p.Pro1076fs)
NM_206933.3(USH2A):c.3296_3297del (p.Thr1099fs)
NM_206933.3(USH2A):c.3316+6T>C rs373631038
NM_206933.3(USH2A):c.3317-8C>A rs886044611
NM_206933.3(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.3(USH2A):c.3384_3417del (p.Asn1129fs)
NM_206933.3(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.3(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_206933.3(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3581C>T (p.Pro1194Leu) rs145114751
NM_206933.3(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531
NM_206933.3(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.3(USH2A):c.3788G>A (p.Trp1263Ter)
NM_206933.3(USH2A):c.3861A>G (p.Lys1287=) rs750789180
NM_206933.3(USH2A):c.3887T>C (p.Val1296Ala) rs552551256
NM_206933.3(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328
NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.3(USH2A):c.4016T>G (p.Val1339Gly)
NM_206933.3(USH2A):c.4071G>A (p.Thr1357=)
NM_206933.3(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.3(USH2A):c.4125del (p.Tyr1376fs) rs1064793506
NM_206933.3(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.3(USH2A):c.4383A>G (p.Gln1461=)
NM_206933.3(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4490C>T (p.Ser1497Phe)
NM_206933.3(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.3(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.3(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.3(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.3(USH2A):c.4628-63C>T
NM_206933.3(USH2A):c.4646G>C (p.Arg1549Pro) rs190170807
NM_206933.3(USH2A):c.4680A>C (p.Ala1560=) rs1233583863
NM_206933.3(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.3(USH2A):c.4803A>T (p.Gln1601His) rs761306493
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.486-1G>C rs876657730
NM_206933.3(USH2A):c.486-1_625del
NM_206933.3(USH2A):c.4882A>T (p.Thr1628Ser) rs794727386
NM_206933.3(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.3(USH2A):c.5858-1G>A rs397518023
NM_206933.3(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.5921C>T (p.Thr1974Ile) rs1558241630
NM_206933.3(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.3(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291
NM_206933.3(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.3(USH2A):c.5993G>A (p.Arg1998His) rs143624066
NM_206933.3(USH2A):c.6032A>G (p.Asn2011Ser) rs1371723634
NM_206933.3(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884
NM_206933.3(USH2A):c.6094C>T (p.Leu2032=) rs1385829693
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6133C>T (p.His2045Tyr) rs749333215
NM_206933.3(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6175G>A (p.Val2059Ile) rs767444125
NM_206933.3(USH2A):c.6225G>C (p.Trp2075Cys) rs1553294134
NM_206933.3(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6325+1G>A
NM_206933.3(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.3(USH2A):c.6369C>T (p.Cys2123=) rs111033472
NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964
NM_206933.3(USH2A):c.6462G>A (p.Leu2154=) rs1558203898
NM_206933.3(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6554A>G (p.His2185Arg) rs1064797135
NM_206933.3(USH2A):c.6581A>G (p.Tyr2194Cys) rs1553286786
NM_206933.3(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117
NM_206933.3(USH2A):c.6618A>G (p.Gln2206=) rs745614158
NM_206933.3(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.3(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212
NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6875G>A (p.Arg2292His) rs41277210
NM_206933.3(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.3(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.6958-10A>G rs727504213
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.6988G>A (p.Glu2330Lys)
NM_206933.3(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.3(USH2A):c.7039G>A (p.Val2347Met) rs727503721
NM_206933.3(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178
NM_206933.3(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=)
NM_206933.3(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577
NM_206933.3(USH2A):c.7206G>A (p.Leu2402=)
NM_206933.3(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966
NM_206933.3(USH2A):c.7300+29A>G
NM_206933.3(USH2A):c.7300+43C>T
NM_206933.3(USH2A):c.7301-6C>T rs375499259
NM_206933.3(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7527G>T (p.Arg2509=) rs575939496
NM_206933.3(USH2A):c.7540A>C (p.Asn2514His) rs777618162
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.7573C>A (p.Pro2525Thr) rs762553660
NM_206933.3(USH2A):c.7584C>T (p.Thr2528=) rs78250390
NM_206933.3(USH2A):c.7594+128C>A
NM_206933.3(USH2A):c.7595-1906T>A
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-2A>G rs1064795047
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637
NM_206933.3(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.3(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.3(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.3(USH2A):c.792G>A (p.Glu264=) rs886043440
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.3(USH2A):c.8016G>A (p.Leu2672=) rs368327746
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452
NM_206933.3(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206933.3(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8559-7G>A rs199618999
NM_206933.3(USH2A):c.8584C>T (p.Gln2862Ter)
NM_206933.3(USH2A):c.8634_8637TATT[3] (p.Ser2881fs) rs1553272035
NM_206933.3(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.3(USH2A):c.8710G>A (p.Val2904Ile) rs142649882
NM_206933.3(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292
NM_206933.3(USH2A):c.8778G>A (p.Glu2926=)
NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.3(USH2A):c.8815A>G (p.Thr2939Ala) rs1314306343
NM_206933.3(USH2A):c.8845+382A>G
NM_206933.3(USH2A):c.8845+4A>G rs1057519222
NM_206933.3(USH2A):c.8856C>T (p.Asp2952=) rs149306655
NM_206933.3(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.3(USH2A):c.9008T>C (p.Val3003Ala) rs138574386
NM_206933.3(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.3(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9213G>A (p.Ser3071=) rs111033397
NM_206933.3(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.3(USH2A):c.9286G>A (p.Val3096Met) rs147267500
NM_206933.3(USH2A):c.9291A>C (p.Lys3097Asn)
NM_206933.3(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194
NM_206933.3(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9356G>A (p.Arg3119His) rs199885325
NM_206933.3(USH2A):c.9371+1G>C rs41308425
NM_206933.3(USH2A):c.9371+245C>T
NM_206933.3(USH2A):c.9390G>A (p.Trp3130Ter) rs886042766
NM_206933.3(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.3(USH2A):c.9570+1G>A rs760225886
NM_206933.3(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363
NM_206933.3(USH2A):c.9614G>A (p.Arg3205His) rs200726531
NM_206933.3(USH2A):c.9676C>T (p.Arg3226Ter)
NM_206933.3(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.3(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9958+246A>C
NM_206933.3(USH2A):c.9958+4171T>C
NM_206933.3(USH2A):c.9958+8G>T rs370383574
NM_206933.3(USH2A):c.9993G>A (p.Met3331Ile) rs1255334312

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