ClinVar Miner

List of variants in gene USH2A studied for Retinitis pigmentosa

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_206933.4(USH2A):c.4627+562C>T rs769348449 0.00169
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.4627+1133G>A rs138139294 0.00167
NM_206933.4(USH2A):c.4627+281T>C rs570544314 0.00163
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.4627+981T>A rs41277220 0.00135
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.3157+12C>T rs199853422 0.00088
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.4627+801C>G rs41277222 0.00064
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.4627+411A>G rs772732997 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.4627+561T>C rs566131886 0.00035
NM_206933.4(USH2A):c.2167+11C>T rs139647897 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.4627+161T>C rs771693146 0.00017
NM_206933.4(USH2A):c.4627+596A>G rs1036513961 0.00016
NM_206933.4(USH2A):c.4627+851A>G rs779885066 0.00016
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) rs373190681 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=) rs767648070 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) rs567937233 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.4627+510G>A rs941646674 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.4627+10T>C rs148657311 0.00005
NM_206933.4(USH2A):c.4627+610G>A rs886045947 0.00005
NM_206933.4(USH2A):c.-305C>G rs1430551833 0.00004
NM_206933.4(USH2A):c.-355C>G rs868097748 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.126C>T (p.Asn42=) rs774473277 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) rs766038321 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4627+686T>A rs977631162 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=) rs755765979 0.00002
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn) rs747578300 0.00002
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845 0.00002
NM_206933.4(USH2A):c.4627+850C>T rs906951959 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_206933.4(USH2A):c.-204-15G>A rs1162064882 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp) rs764113446 0.00001
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) rs1660298900 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) rs759589036 0.00001
NM_206933.4(USH2A):c.1972-4C>T rs772294505 0.00001
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) rs753305011 0.00001
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser) rs776095235 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile) rs886045953 0.00001
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser) rs756203141 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
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.8682delG rs527236120
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.-159G>C rs886045955
NM_206933.4(USH2A):c.-181C>T rs866904288
NM_206933.4(USH2A):c.-289C>A rs886045956
NM_206933.4(USH2A):c.-289C>T rs886045956
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu) rs1472714005
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) rs1659891151
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) rs1657992030
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly) rs1558048384
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys) rs201238640
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu) rs2037663922
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu) rs755099565
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter) rs1571945537
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer) rs1656646424
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) rs111033273
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) rs2036149054
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2810-1G>A rs778336512
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala) rs754932972
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.4(USH2A):c.3660A>G (p.Val1220=) rs2034940102
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser) rs2034687815
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_206933.4(USH2A):c.4627+1091T>C rs886045945
NM_206933.4(USH2A):c.4627+28A>G rs773190850
NM_206933.4(USH2A):c.4627+330A>G rs886045949
NM_206933.4(USH2A):c.4627+343A>G rs2034344204
NM_206933.4(USH2A):c.4627+36C>T rs577393945
NM_206933.4(USH2A):c.4627+442C>G rs1037400670
NM_206933.4(USH2A):c.4627+48A>T rs74874838
NM_206933.4(USH2A):c.4627+512G>A rs2034341678
NM_206933.4(USH2A):c.4627+589C>A rs886045948
NM_206933.4(USH2A):c.4627+813C>T rs192047831
NM_206933.4(USH2A):c.4627+974T>C rs2034329165
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg) rs2039619957
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala) rs750077857
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter)
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr) rs1571948108
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
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) rs2039692173
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs) rs2102549174
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly) rs2030621345
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.637C>T (p.His213Tyr) rs2039613657
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.651+15A>G rs765252898
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg) rs1571744237
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr) rs1421761057
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu) rs1667316070
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.4(USH2A):c.7588del (p.Glu2530fs) rs1665448415
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8223+1G>C rs1553273280
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys) rs1026326311
NM_206933.4(USH2A):c.841A>C (p.Thr281Pro) rs2037760472
NM_206933.4(USH2A):c.849-4A>G rs765189933
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter) rs1664490756
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9259-503_9371+1650del
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe) rs746007103
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
Single allele

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