ClinVar Miner

List of variants in gene USH2A studied for Retinal dystrophy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 374
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HGVS dbSNP
NM_007123.5(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
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.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900
NM_206933.3(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11048-2A>G rs200871041
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.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.3(USH2A):c.11549-1G>A rs878853407
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.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
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.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578
NM_206933.3(USH2A):c.13071A>C (p.Ser4357=) rs568141672
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
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.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1391G>A (p.Arg464His) rs771000800
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
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.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) rs781223647
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2139C>T (p.Gly713=) rs765293412
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.3(USH2A):c.2705G>A (p.Cys902Tyr) rs780846352
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+1G>A rs759433119
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.4016T>G (p.Val1339Gly) rs781668118
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4251+1G>A rs878853405
NM_206933.3(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651
NM_206933.3(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.3(USH2A):c.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593
NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6326-1G>A rs878853411
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6470del (p.Arg2157fs) rs878853414
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.3(USH2A):c.6801G>A (p.Pro2267=) rs375235470
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.3(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430
NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.3(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9258+1G>T rs748810737
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.3(USH2A):c.9433C>T (p.Leu3145Phe)
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.997T>C (p.Ser333Pro) rs368986242
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10183-2A>G
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly)
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
NM_206933.4(USH2A):c.1038_1091dup (p.Gln364_Leu365insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr)
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg)
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val)
NM_206933.4(USH2A):c.11548+2T>G
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.11895del (p.Gln3966fs)
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12252del (p.Leu4085fs)
NM_206933.4(USH2A):c.12295-2A>G rs151148854
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
NM_206933.4(USH2A):c.1277dup (p.Asn426fs)
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser)
NM_206933.4(USH2A):c.12913del (p.Met4305fs)
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp)
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del)
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs)
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter)
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs)
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro)
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys)
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=)
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14791+5G>T
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs)
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe)
NM_206933.4(USH2A):c.15297+1G>C
NM_206933.4(USH2A):c.1550+2T>C
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1644+1G>A
NM_206933.4(USH2A):c.1644+2T>A
NM_206933.4(USH2A):c.1644+5G>C
NM_206933.4(USH2A):c.1672del (p.Asp558fs)
NM_206933.4(USH2A):c.1674C>T (p.Asp558=)
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2293del (p.Gln765fs)
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe)
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2761del (p.Leu921fs)
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp)
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs)
NM_206933.4(USH2A):c.2993+3A>T
NM_206933.4(USH2A):c.299T>A (p.Leu100His)
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe)
NM_206933.4(USH2A):c.3157+5G>A
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.4(USH2A):c.3316+5G>C
NM_206933.4(USH2A):c.3317-2A>G
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser)
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val)
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4384del (p.Thr1462fs)
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr)
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val)
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs)
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5573-834A>G
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
NM_206933.4(USH2A):c.5857+1G>C
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly)
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His)
NM_206933.4(USH2A):c.6806-3C>T
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg)
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro)
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
NM_206933.4(USH2A):c.7468del (p.Ser2490fs)
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del)
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
NM_206933.4(USH2A):c.785-3C>G
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu)
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His)
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs)
NM_206933.4(USH2A):c.8682-16C>G
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
NM_206933.4(USH2A):c.8859del (p.Gln2954fs)
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9570+1G>A rs760225886
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser)
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys)
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)

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