ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 513
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
NC_000001.10:g.(?_215802146)_(215808055_?)dup
NC_000001.10:g.(?_215807801)_(215808045_?)del
NC_000001.10:g.(?_215967783)_(215972477_?)del
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000001.10:g.(?_216049419_216051126del
NC_000001.10:g.(?_216107948)_(216138831_?)dup
NC_000001.10:g.(?_216108028)_(216110946_?)del
NC_000001.10:g.(?_216219884_216227803del
NC_000001.10:g.(?_216363565)_(216373463_?)del
NC_000001.10:g.(?_216372959)_(216373473_?)del
NC_000001.10:g.(?_216591882_216592022del
NC_000001.11:g.(?_215766671)_(215934805_?)del
NC_000001.11:g.(?_215798897)_(215799135_?)del
NC_000001.11:g.215741537del
NM_007123.5(USH2A):c.1547G>T (p.Gly516Val) rs1415484067
NM_007123.5(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_007123.5(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_007123.5(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_007123.5(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_007123.5(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_007123.5(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_007123.5(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) rs527236120
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.3(USH2A):c.10183-1375_10387+1389del
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
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.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.3(USH2A):c.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.10403C>T (p.Pro3468Leu) rs1553261476
NM_206933.3(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.3(USH2A):c.10586-2A>G rs370327669
NM_206933.3(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
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.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.3(USH2A):c.10741-1G>T rs1064795279
NM_206933.3(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
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.11231+1G>A rs111033382
NM_206933.3(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
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.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.3(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126
NM_206933.3(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.3(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.3(USH2A):c.11712-2A>C rs753505333
NM_206933.3(USH2A):c.11712-2A>G rs753505333
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.3(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.3(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
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.12580T>C (p.Cys4194Arg) rs769001387
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.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.3(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13274C>A (p.Thr4425Lys) rs201238640
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
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.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.3(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13811+2T>C rs766515318
NM_206933.3(USH2A):c.13812-1G>A rs199782530
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.13898del (p.Pro4632_Leu4633insTer) rs1553252052
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.13948C>T (p.Gln4650Ter) rs1571945537
NM_206933.3(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14344-1G>A rs919142559
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.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.3(USH2A):c.14791+2T>A rs1553250050
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.3(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.3(USH2A):c.14969-1G>A rs1553249311
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.3(USH2A):c.15052+1G>A rs1553249290
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.3(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.3(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.1965T>G (p.Cys655Trp) rs1558366840
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val) rs1360258103
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.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2994-2A>G rs1553316430
NM_206933.3(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.3(USH2A):c.3317-1G>A rs1553313909
NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
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.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4081+2T>C rs1553313505
NM_206933.3(USH2A):c.4082-2A>G rs1553313340
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.3(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_206933.3(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.3(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.3(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.486-1_625del rs1571801564
NM_206933.3(USH2A):c.4886-1G>A rs1553300340
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.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.4988-2A>G rs143521854
NM_206933.3(USH2A):c.5009T>C (p.Val1670Ala) rs750077857
NM_206933.3(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984
NM_206933.3(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167+1G>C rs794727408
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.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.3(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.3(USH2A):c.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.5883_5884del (p.Arg1962fs) rs1553297684
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6050-2A>G rs772124060
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.3(USH2A):c.6326-2A>G rs1553287118
NM_206933.3(USH2A):c.6326-3_6332del rs1553287116
NM_206933.3(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6470del (p.Arg2157fs) rs878853414
NM_206933.3(USH2A):c.647T>G (p.Val216Gly) rs1571801514
NM_206933.3(USH2A):c.6485+1G>A rs1553287070
NM_206933.3(USH2A):c.651+1G>A rs1553257761
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.6672dup (p.Gly2225fs) rs1284826852
NM_206933.3(USH2A):c.6675dup (p.Cys2226fs) rs1553285970
NM_206933.3(USH2A):c.6708_6717del (p.Asp2237fs) rs1553285944
NM_206933.3(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.3(USH2A):c.6805+1G>T rs1553285919
NM_206933.3(USH2A):c.6810del (p.Ile2271fs) rs1553282707
NM_206933.3(USH2A):c.6868dup (p.Ser2290fs) rs1553282698
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.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.3(USH2A):c.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.3(USH2A):c.7531del (p.Val2511fs) rs1553274435
NM_206933.3(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.3(USH2A):c.7594+2del rs762608746
NM_206933.3(USH2A):c.7595-1G>A rs1553273421
NM_206933.3(USH2A):c.7595-1G>T rs1553273421
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.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.820C>G (p.Arg274Gly) rs397518036
NM_206933.3(USH2A):c.8223+1G>C rs1553273280
NM_206933.3(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8266del (p.Ser2756fs) rs1558141330
NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_206933.3(USH2A):c.8682-1G>A rs1553271001
NM_206933.3(USH2A):c.8682-2A>C rs1553271002
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8835G>A (p.Trp2945Ter) rs1553270960
NM_206933.3(USH2A):c.8845+1G>A rs1553270954
NM_206933.3(USH2A):c.8846-1G>T rs771051185
NM_206933.3(USH2A):c.8846-2A>G rs1553268594
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.3(USH2A):c.9055+1G>A rs1553268562
NM_206933.3(USH2A):c.9055+1del rs1553268563
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.3(USH2A):c.9191del (p.Thr3064fs) rs1553268435
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9258+1G>T rs748810737
NM_206933.3(USH2A):c.9259-503_9371+1650del
NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.3(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308
NM_206933.3(USH2A):c.9453T>A (p.Tyr3151Ter) rs1553265829
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9919T>A (p.Cys3307Ser) rs1553263572
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.3(USH2A):c.9959-1G>A rs970237364
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
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.10407C>A (p.Tyr3469Ter)
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.10585+3A>G
NM_206933.4(USH2A):c.10586-1G>T
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.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10939+2T>C
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
NM_206933.4(USH2A):c.11231+1G>C
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
NM_206933.4(USH2A):c.11389+1G>T
NM_206933.4(USH2A):c.11389+2T>C
NM_206933.4(USH2A):c.11390-1G>A
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256
NM_206933.4(USH2A):c.11895del (p.Gln3966fs)
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12252del (p.Leu4085fs)
NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.4(USH2A):c.12294+1G>C rs111033526
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.1236G>A (p.Trp412Ter)
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys)
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982
NM_206933.4(USH2A):c.1277dup (p.Asn426fs)
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr)
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.12913del (p.Met4305fs)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs) rs1553252409
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp)
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.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup)
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
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.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14343+1G>A
NM_206933.4(USH2A):c.14344-1G>T
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14791+1G>A
NM_206933.4(USH2A):c.14791+5G>T
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
NM_206933.4(USH2A):c.14968+2T>G
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs)
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.15297+1G>C
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.1550+2T>C
NM_206933.4(USH2A):c.1644+1G>A
NM_206933.4(USH2A):c.1644+2T>A
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1672del (p.Asp558fs)
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.1971+1G>T
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
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.2330G>A (p.Cys777Tyr)
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
NM_206933.4(USH2A):c.2761del (p.Leu921fs)
NM_206933.4(USH2A):c.2809+1G>C
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.288del (p.Tyr97fs)
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs)
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3316+2T>A
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) rs1553313844
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
NM_206933.4(USH2A):c.4082-1G>A
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4251+1G>T
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651
NM_206933.4(USH2A):c.4628-2A>G
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs)
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg)
NM_206933.4(USH2A):c.4885+1G>A
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg)
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) rs1571941465
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
NM_206933.4(USH2A):c.5573-834A>G
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5857+1G>C
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly)
NM_206933.4(USH2A):c.6163+1G>A
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter)
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.652-2A>G
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
NM_206933.4(USH2A):c.6806-2A>G
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg)
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser)
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs) rs1553281890
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
NM_206933.4(USH2A):c.7300+1G>C
NM_206933.4(USH2A):c.7301-1G>A
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.7451+1G>A
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016
NM_206933.4(USH2A):c.781_784+1375del
NM_206933.4(USH2A):c.784+2T>C
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8224-1G>C
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
NM_206933.4(USH2A):c.848+1G>T
NM_206933.4(USH2A):c.848+2T>C
NM_206933.4(USH2A):c.849-2A>G
NM_206933.4(USH2A):c.8559-1G>T
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs) rs1553272035
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8655_8681+1681del
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs)
NM_206933.4(USH2A):c.8681+1G>A rs876657733
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
NM_206933.4(USH2A):c.8845+2T>G
NM_206933.4(USH2A):c.8859del (p.Gln2954fs)
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) rs1553268434
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796
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.9691C>T (p.Gln3231Ter)
NM_206933.4(USH2A):c.9739+1G>C
NM_206933.4(USH2A):c.9740-1G>A
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958+2T>C
NM_206933.4(USH2A):c.9959-4159A>G
Single allele

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