ClinVar Miner

List of variants in gene USH2A reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 499
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:216212155-216234471)x1
GRCh37/hg19 1q41(chr1:216355508-216417771)x1
NC_000001.10:g.(?_215914707)_(215933195_?)dup
NC_000001.10:g.216144119_216591855del447737
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000001.11:g.(?_215670962)_(215671303_?)del
NC_000001.11:g.(?_215670962)_(215675626_?)del
NC_000001.11:g.(?_215813726)_(215817205_?)del
NC_000001.11:g.(?_215837981)_(215838113_?)del
NC_000001.11:g.(?_215837981)_(215846043_?)del
NC_000001.11:g.(?_215837991)_(215844496_?)dup
NC_000001.11:g.(?_215837991)_(215846033_?)del
NC_000001.11:g.(?_215867007)_(215993167_?)del
NC_000001.11:g.(?_215888426)_(215900905_?)del
NC_000001.11:g.(?_215993010)_(215993177_?)del
NC_000001.11:g.(?_216070101)_(216097213_?)del
NC_000001.11:g.(?_216078079)_(216078372_?)del
NC_000001.11:g.(?_216086709)_(216097223_?)del
NC_000001.11:g.(?_216086719)_(216097213_?)del
NC_000001.11:g.(?_216089003)_(216097223_?)del
NC_000001.11:g.(?_216097073)_(216097223_?)del
NC_000001.11:g.(?_216175228)_(216175492_?)del
NC_000001.11:g.(?_216217387)_(216292370_?)del
NC_000001.11:g.(?_216250893)_(216251108_?)del
NC_000001.11:g.(?_216289280)_(216292370_?)del
NC_000001.11:g.(?_216292165)_(216327664_?)del
NC_000001.11:g.(?_216292175)_(216327654_?)del
NC_000001.11:g.(?_216321873)_(216327664_?)del
NC_000001.11:g.(?_216364943)_(216365095_?)del
NC_000001.11:g.(?_216364953)_(216365085_?)del
NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_007123.5(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_007123.5(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.3004del (p.Cys1002fs) rs1572060089
NM_007123.5(USH2A):c.3086del (p.Gly1029fs) rs886044060
NM_007123.5(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_007123.5(USH2A):c.3224_3225dup (p.Pro1076fs) rs1572051012
NM_007123.5(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_007123.5(USH2A):c.402del (p.Cys135fs) rs1255535680
NM_007123.5(USH2A):c.4125del (p.Tyr1376fs) rs1064793506
NM_007123.5(USH2A):c.4129_4130TC[4] (p.Asn1379fs) rs397518015
NM_007123.5(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_007123.5(USH2A):c.485+3A>T rs1553258031
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_007123.5(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?))
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?))
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?))
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.11048-?_11711+?dup
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10318del (p.Ile3440fs) rs1553261898
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.10388-1G>A rs1553261478
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.3(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843
NM_206933.3(USH2A):c.11047+1G>A rs201730567
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.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.11389+1del rs1414935620
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) rs55921307
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.12232_12233GA[1] (p.Asn4079fs) rs398124618
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) rs1571702193
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12794del (p.Gly4265fs) rs1571949264
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12854G>A (p.Trp4285Ter) rs766491471
NM_206933.3(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
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.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.13695T>G (p.Tyr4565Ter) rs1553252343
NM_206933.3(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
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.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.14500_14501TC[1] (p.Pro4835fs) rs794727830
NM_206933.3(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.3(USH2A):c.14792-2A>G rs137853923
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.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15403del (p.Thr5135fs) rs770984400
NM_206933.3(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) rs781223647
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
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.2293C>T (p.Gln765Ter) rs777629750
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+1G>A rs759433119
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.3158-2A>G rs878853404
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.3384_3417del (p.Asn1129fs) rs1572042851
NM_206933.3(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828
NM_206933.3(USH2A):c.3788G>A (p.Trp1263Ter) rs1572042090
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
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.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
NM_206933.3(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.3(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.3(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5158del (p.Phe1719_Leu1720insTer) rs1571947978
NM_206933.3(USH2A):c.5167+1G>T rs794727408
NM_206933.3(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105
NM_206933.3(USH2A):c.538T>C (p.Ser180Pro) rs1171672823
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079
NM_206933.3(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.3(USH2A):c.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5764C>T (p.Gln1922Ter) rs1571936130
NM_206933.3(USH2A):c.5776+2T>C rs866978361
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6325+1G>A rs1293202153
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.6639del (p.Lys2213fs) rs876657732
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.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8271T>G (p.Tyr2757Ter) rs1571774019
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
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.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8584C>T (p.Gln2862Ter) rs748863844
NM_206933.3(USH2A):c.8634_8637TATT[3] (p.Ser2881fs) rs1553272035
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.3(USH2A):c.9390G>A (p.Trp3130Ter) rs886042766
NM_206933.3(USH2A):c.9433C>T (p.Leu3145Phe)
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9676C>T (p.Arg3226Ter) rs760858249
NM_206933.3(USH2A):c.9685del (p.Glu3229fs) rs878853233
NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) rs141672841
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.10074C>A (p.Cys3358Ter)
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.10324G>T (p.Glu3442Ter)
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
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.10627_10628insA (p.Arg3543fs)
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10845_10851del (p.Ser3616fs)
NM_206933.4(USH2A):c.10962C>A (p.Tyr3654Ter)
NM_206933.4(USH2A):c.11048-1G>A rs111033414
NM_206933.4(USH2A):c.11074del (p.Ile3692fs)
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)
NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter) rs727504608
NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter)
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) rs1571657777
NM_206933.4(USH2A):c.11361T>A (p.Tyr3787Ter)
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11548+2T>G
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)
NM_206933.4(USH2A):c.11724_11725del (p.Gly3908_Ile3909insTer)
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)
NM_206933.4(USH2A):c.11824dup (p.Val3942fs)
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11867C>G (p.Ser3956Ter)
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.12067-1G>A rs397517977
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12093del (p.Leu4030_Tyr4031insTer)
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.12202G>T (p.Gly4068Ter)
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
NM_206933.4(USH2A):c.12274del (p.Arg4092fs)
NM_206933.4(USH2A):c.12295-2A>G rs151148854
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)
NM_206933.4(USH2A):c.12497_13811+148del
NM_206933.4(USH2A):c.12525G>T (p.Trp4175Cys)
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.12703C>T (p.Gln4235Ter)
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
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.12979del (p.Ser4327fs)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
NM_206933.4(USH2A):c.13587del (p.Ser4530fs) rs1571948114
NM_206933.4(USH2A):c.13598C>G (p.Ser4533Ter)
NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter) rs751411512
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)
NM_206933.4(USH2A):c.13876C>T (p.Gln4626Ter)
NM_206933.4(USH2A):c.14007T>A (p.Tyr4669Ter)
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.14529del (p.Thr4844fs)
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.4(USH2A):c.14880_14881insGA (p.Leu4961fs)
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer)
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994
NM_206933.4(USH2A):c.14965A>T (p.Lys4989Ter)
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)
NM_206933.4(USH2A):c.1687C>T (p.Gln563Ter)
NM_206933.4(USH2A):c.1751G>T (p.Cys584Phe)
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
NM_206933.4(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_206933.4(USH2A):c.1995_2002dup (p.Val668fs)
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) rs727503736
NM_206933.4(USH2A):c.2599C>T (p.Gln867Ter)
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2815del (p.Tyr939fs) rs1572074292
NM_206933.4(USH2A):c.2853C>A (p.Cys951Ter)
NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter)
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.4(USH2A):c.3317-2A>G
NM_206933.4(USH2A):c.3372_3373del (p.Tyr1124_Ile1125insTer)
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3493del (p.Ser1164_Val1165insTer)
NM_206933.4(USH2A):c.3604G>T (p.Glu1202Ter)
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
NM_206933.4(USH2A):c.3737dup (p.Ser1247fs)
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
NM_206933.4(USH2A):c.4182_4183TG[1] (p.Val1395fs)
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
NM_206933.4(USH2A):c.4384del (p.Thr1462fs)
NM_206933.4(USH2A):c.4396+2T>G
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.449T>G (p.Leu150Ter)
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
NM_206933.4(USH2A):c.4628-2A>G
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) rs397518018
NM_206933.4(USH2A):c.5038A>T (p.Lys1680Ter)
NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter)
NM_206933.4(USH2A):c.5151_5152del (p.Gln1718fs)
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.5352dup (p.Thr1785fs)
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
NM_206933.4(USH2A):c.5512dup (p.Tyr1838fs)
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs)
NM_206933.4(USH2A):c.5678C>G (p.Ser1893Ter)
NM_206933.4(USH2A):c.5751C>A (p.Tyr1917Ter)
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5781C>A (p.Tyr1927Ter)
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6125_6126AG[3] (p.Ser2043fs)
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) rs727504893
NM_206933.4(USH2A):c.6394del (p.Ser2132fs)
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6485+5G>A
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
NM_206933.4(USH2A):c.6931del (p.Ala2311fs)
NM_206933.4(USH2A):c.6990del (p.Gly2331fs)
NM_206933.4(USH2A):c.7023dup (p.Ser2342fs)
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
NM_206933.4(USH2A):c.7231C>T (p.Gln2411Ter)
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7468del (p.Ser2490fs)
NM_206933.4(USH2A):c.7588del (p.Glu2530fs)
NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter)
NM_206933.4(USH2A):c.773_774AG[1] (p.Ser259fs)
NM_206933.4(USH2A):c.7831del (p.Ser2611fs)
NM_206933.4(USH2A):c.7873G>T (p.Glu2625Ter)
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.803del (p.Gly268fs)
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.8231G>A (p.Trp2744Ter)
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter)
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter)
NM_206933.4(USH2A):c.8681+1G>A rs876657733
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)
NM_206933.4(USH2A):c.8932_8933insSVAelement
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter) rs397518042
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) rs397518046
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
NM_206933.4(USH2A):c.9371+1G>C rs41308425
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)
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.9638del (p.Pro3213fs)
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.4(USH2A):c.9811del (p.Met3271fs)
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
NM_206933.4(USH2A):c.9912dup (p.Glu3305fs)
NM_206933.4(USH2A):c.991_992AG[1] (p.Arg331fs) rs1571703801
Single allele

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