ClinVar Miner

List of variants in gene USH2A reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.3(USH2A):c.*4A>G rs530405236
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.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.3(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
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.10470G>T (p.Val3490=) rs201401001
NM_206933.3(USH2A):c.10497T>C (p.Pro3499=)
NM_206933.3(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
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.10836C>A (p.Val3612=) rs61276761
NM_206933.3(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.3(USH2A):c.10901A>G (p.His3634Arg) rs1553261102
NM_206933.3(USH2A):c.10928A>G (p.His3643Arg)
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11124C>G (p.Pro3708=) rs773828586
NM_206933.3(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857
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.11467G>A (p.Val3823Ile) rs142481947
NM_206933.3(USH2A):c.11506C>T (p.Pro3836Ser)
NM_206933.3(USH2A):c.11549-16dup rs34565443
NM_206933.3(USH2A):c.11549-5del rs34565443
NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126
NM_206933.3(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.3(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285
NM_206933.3(USH2A):c.1179A>G (p.Gln393=) rs148447919
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.11927C>T (p.Thr3976Met) rs142381713
NM_206933.3(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.3(USH2A):c.11946G>A (p.Leu3982=) rs2820718
NM_206933.3(USH2A):c.12046G>A (p.Val4016Met) rs138803855
NM_206933.3(USH2A):c.12067-2A>G rs397517978
NM_206933.3(USH2A):c.12067-4A>G rs1558051325
NM_206933.3(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.3(USH2A):c.12128T>G (p.Val4043Gly) rs376528829
NM_206933.3(USH2A):c.12232_12233GA[1] (p.Asn4079fs) rs398124618
NM_206933.3(USH2A):c.12295-3T>A rs111033518
NM_206933.3(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
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.12455A>G (p.Glu4152Gly) rs768614804
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
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.12608A>G (p.Gln4203Arg) rs148556640
NM_206933.3(USH2A):c.12612= (p.Thr4204=) rs2797235
NM_206933.3(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.3(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.3(USH2A):c.12997C>G (p.Leu4333Val) rs770620234
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.13191G>A (p.Glu4397=) rs2009923
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.13343A>G (p.Asp4448Gly) rs150532013
NM_206933.3(USH2A):c.13404A>G (p.Arg4468=) rs146994147
NM_206933.3(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.3(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.3(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345
NM_206933.3(USH2A):c.13586C>T (p.Pro4529Leu) rs754560573
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.14073C>T (p.Asn4691=) rs370364142
NM_206933.3(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
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.1434G>C (p.Glu478Asp) rs35730265
NM_206933.3(USH2A):c.1438G>A (p.Val480Ile) rs138694314
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.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.14543G>A (p.Arg4848Gln) rs77211159
NM_206933.3(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691
NM_206933.3(USH2A):c.14664G>A (p.Thr4888=) rs111033525
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.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.15076A>G (p.Lys5026Glu) rs41308435
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.15297+3A>G rs57754754
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.15377T>C (p.Ile5126Thr) rs111033266
NM_206933.3(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.3(USH2A):c.15428G>A (p.Arg5143His) rs111033435
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.15546C>T (p.Asn5182=) rs546494522
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.3(USH2A):c.1663C>G (p.Leu555Val) rs35818432
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.1891G>A (p.Asp631Asn)
NM_206933.3(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2094C>T (p.Thr698=) rs141489104
NM_206933.3(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
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.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_206933.3(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_206933.3(USH2A):c.2992A>G (p.Arg998Gly) rs794727135
NM_206933.3(USH2A):c.299T>C (p.Leu100Pro) rs1558082163
NM_206933.3(USH2A):c.3086del (p.Gly1029fs) rs886044060
NM_206933.3(USH2A):c.3123C>A (p.His1041Gln) rs149304901
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.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.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.3(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_206933.3(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.3(USH2A):c.373G>A (p.Ala125Thr) rs10779261
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.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.4136A>G (p.Asn1379Ser) rs752569816
NM_206933.3(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_206933.3(USH2A):c.4383A>G (p.Gln1461=)
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.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.3(USH2A):c.4758+3A>G rs117798425
NM_206933.3(USH2A):c.478G>A (p.Gly160Ser) rs111033479
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.4882A>T (p.Thr1628Ser) rs794727386
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.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.6094C>T (p.Leu2032=) rs1385829693
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
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.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.3(USH2A):c.6270A>G (p.Leu2090=) rs56245532
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.3(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.3(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.3(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
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.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.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.3(USH2A):c.6958-10A>G rs727504213
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.7168G>A (p.Gly2390Arg) rs376983577
NM_206933.3(USH2A):c.7206G>A (p.Leu2402=)
NM_206933.3(USH2A):c.7301-6C>T rs375499259
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7506G>A (p.Pro2502=) rs12404427
NM_206933.3(USH2A):c.7527G>T (p.Arg2509=) rs575939496
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.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.7685T>C (p.Val2562Ala) rs56385601
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.8016G>A (p.Leu2672=) rs368327746
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.8552A>C (p.Asn2851Thr) rs577389392
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8559-7G>A rs199618999
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.8730T>A (p.Phe2910Leu) rs373811292
NM_206933.3(USH2A):c.8778G>A (p.Glu2926=)
NM_206933.3(USH2A):c.8815A>G (p.Thr2939Ala) rs1314306343
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.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.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
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.9371+1G>C rs41308425
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.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.3(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363
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+8G>T rs370383574

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