ClinVar Miner

List of variants in gene USH2A studied for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP
NM_007123.5(USH2A):c.*1024T>C rs439940
NM_007123.5(USH2A):c.*1077T>C rs886045945
NM_007123.5(USH2A):c.*1128G>T rs401269
NM_007123.5(USH2A):c.*131T>G rs55761862
NM_007123.5(USH2A):c.*147T>C rs771693146
NM_007123.5(USH2A):c.*267T>C rs570544314
NM_007123.5(USH2A):c.*316A>G rs886045949
NM_007123.5(USH2A):c.*397A>G rs772732997
NM_007123.5(USH2A):c.*547T>C rs566131886
NM_007123.5(USH2A):c.*548C>T rs769348449
NM_007123.5(USH2A):c.*575C>A rs886045948
NM_007123.5(USH2A):c.*596G>A rs886045947
NM_007123.5(USH2A):c.*685C>A rs59704861
NM_007123.5(USH2A):c.*787C>G rs41277222
NM_007123.5(USH2A):c.*799C>T rs192047831
NM_007123.5(USH2A):c.*837A>G rs779885066
NM_007123.5(USH2A):c.-159G>C rs886045955
NM_007123.5(USH2A):c.-181C>T rs866904288
NM_007123.5(USH2A):c.-289C>A rs886045956
NM_007123.5(USH2A):c.-289C>T rs886045956
NM_007123.5(USH2A):c.-355C>G rs868097748
NM_007123.5(USH2A):c.126C>T (p.Asn42=) rs774473277
NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_007123.5(USH2A):c.1346G>A (p.Arg449His) rs766715882
NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_007123.5(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser) rs759589036
NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) rs201808654
NM_007123.5(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser) rs776095235
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.3157+12C>T rs199853422
NM_007123.5(USH2A):c.3177G>A (p.Pro1059=) rs767648070
NM_007123.5(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_007123.5(USH2A):c.3342C>T (p.Asp1114=) rs755765979
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_007123.5(USH2A):c.3780T>C (p.His1260=) rs759937489
NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) rs886045953
NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950
NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_007123.5(USH2A):c.651+15A>G rs765252898
NM_007123.5(USH2A):c.672C>A (p.Ser224Arg) rs1571744237
NM_007123.5(USH2A):c.849-4A>G rs765189933
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) rs760741238
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.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) rs527236120
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.3(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
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.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.3(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) rs201709470
NM_206933.3(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
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.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.3(USH2A):c.13123T>G (p.Cys4375Gly) rs1558048384
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
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.13339A>G (p.Met4447Val) rs139474806
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.13847G>T (p.Gly4616Val) rs527236124
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
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.14020A>G (p.Arg4674Gly) rs80338904
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.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.1438G>A (p.Val480Ile) rs138694314
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.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) rs147509797
NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
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.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
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.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
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.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845
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.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
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.5009T>C (p.Val1670Ala) rs750077857
NM_206933.3(USH2A):c.5074G>T (p.Asp1692Tyr) rs1571948108
NM_206933.3(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
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.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
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.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8223+1G>C rs1553273280
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390
NM_206933.3(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.3(USH2A):c.9259-503_9371+1650del
NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.3(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219
NM_206933.3(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308
NM_206933.3(USH2A):c.9503G>T (p.Cys3168Phe) rs746007103
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.3(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.-204-15G>A
NM_206933.4(USH2A):c.-305C>G
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919
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.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer)
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.1972-4C>T
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.4(USH2A):c.2167+11C>T rs139647897
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281
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.2330G>A (p.Cys777Tyr)
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.3812-8T>G rs646094
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4627+10T>C
NM_206933.4(USH2A):c.4627+1133G>A
NM_206933.4(USH2A):c.4627+28A>G
NM_206933.4(USH2A):c.4627+32G>T
NM_206933.4(USH2A):c.4627+343A>G
NM_206933.4(USH2A):c.4627+36C>T
NM_206933.4(USH2A):c.4627+442C>G
NM_206933.4(USH2A):c.4627+48A>T
NM_206933.4(USH2A):c.4627+510G>A
NM_206933.4(USH2A):c.4627+512G>A
NM_206933.4(USH2A):c.4627+596A>G
NM_206933.4(USH2A):c.4627+641G>A
NM_206933.4(USH2A):c.4627+686T>A
NM_206933.4(USH2A):c.4627+850C>T
NM_206933.4(USH2A):c.4627+974T>C
NM_206933.4(USH2A):c.4627+981T>A
NM_206933.4(USH2A):c.4628-2A>G
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.486-13G>A rs116367260
NM_206933.4(USH2A):c.486-15C>T rs114194722
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg)
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) rs1571941465
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs)
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly)
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.4(USH2A):c.637C>T (p.His213Tyr)
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser)
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016
NM_206933.4(USH2A):c.7588del (p.Glu2530fs)
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861
NM_206933.4(USH2A):c.841A>C (p.Thr281Pro)
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.4(USH2A):c.848+5G>C rs74329863
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
Single allele

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