ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for Retinitis pigmentosa 39

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Gene type:
ClinVar version:
Total variants: 529
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
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.4397-1G>A rs199982344 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser) rs200761611 0.00008
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 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.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.1972-1G>A rs372927796 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 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.15297+1G>C rs767630412 0.00003
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) rs750321557 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.1644+1G>A rs912980910 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs) rs1284826852 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys) rs937606032 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10586-2A>G rs370327669 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.11389+1G>T rs368770647 0.00001
NM_206933.4(USH2A):c.11389+2dup rs1414433033 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg) rs1255592098 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.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.13742del (p.His4581fs) rs1476222580 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) rs1254637647 0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter) rs1656936749 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 0.00001
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr) rs768813865 0.00001
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) rs1378799607 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.4885+1G>A rs150896588 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5573-834A>G rs1558244152 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.6616C>T (p.Gln2206Ter) rs769609970 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.7594+2del rs762608746 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 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.9469C>T (p.Gln3157Ter) rs772100045 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_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10073G>C (p.Cys3358Ser)
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10165del (p.Thr3389fs)
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10318del (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) rs1661687852
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.4(USH2A):c.10585+2T>A
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.1062G>A (p.Trp354Ter)
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.10641_10645del (p.Ser3548fs)
NM_206933.4(USH2A):c.10643C>A (p.Ser3548Ter)
NM_206933.4(USH2A):c.10711A>G (p.Thr3571Ala) rs763789288
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.10741-1G>T rs1064795279
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10773del (p.Ser3592fs)
NM_206933.4(USH2A):c.10862_10863del (p.Lys3621fs)
NM_206933.4(USH2A):c.10953C>G (p.Tyr3651Ter)
NM_206933.4(USH2A):c.10984dup (p.Thr3662fs)
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) rs1661140054
NM_206933.4(USH2A):c.11047+2T>C
NM_206933.4(USH2A):c.11055G>A (p.Trp3685Ter)
NM_206933.4(USH2A):c.1106T>A (p.Val369Glu)
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.1111_1114del (p.Ile371fs)
NM_206933.4(USH2A):c.11120del (p.Lys3707fs)
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) rs1660922779
NM_206933.4(USH2A):c.11231+1G>A rs111033382
NM_206933.4(USH2A):c.11232-2A>G
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) rs762070900
NM_206933.4(USH2A):c.1134_1143+1del
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11403del (p.Glu3802fs)
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.4(USH2A):c.11447dup (p.Thr3817fs)
NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter) rs2102727387
NM_206933.4(USH2A):c.11549del rs1660304704
NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter)
NM_206933.4(USH2A):c.11564del (p.Ser3855fs)
NM_206933.4(USH2A):c.11712-2A>C rs753505333
NM_206933.4(USH2A):c.11730del (p.Glu3911fs)
NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg)
NM_206933.4(USH2A):c.11787_11799del (p.Asp3930fs)
NM_206933.4(USH2A):c.11833_11835delinsGGGTCAG (p.Cys3945fs)
NM_206933.4(USH2A):c.11850_11860del (p.Glu3952fs)
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.11884G>T (p.Glu3962Ter)
NM_206933.4(USH2A):c.12045del (p.Val4016fs)
NM_206933.4(USH2A):c.12066+1G>C
NM_206933.4(USH2A):c.12067-10_12067dup
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12086dup (p.His4029fs)
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) rs1657997730
NM_206933.4(USH2A):c.12409del (p.Arg4137fs) rs1657992342
NM_206933.4(USH2A):c.12446G>A (p.Trp4149Ter)
NM_206933.4(USH2A):c.12471_12472del (p.Gln4158fs)
NM_206933.4(USH2A):c.12505_12506del (p.Thr4169fs)
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys) rs1657987278
NM_206933.4(USH2A):c.12569T>C (p.Val4190Ala) rs979037444
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.1279_1280del (p.Asn427fs)
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr) rs754131049
NM_206933.4(USH2A):c.12984del (p.Tyr4329fs)
NM_206933.4(USH2A):c.12987T>A (p.Tyr4329Ter)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13018G>C (p.Gly4340Arg) rs2102665930
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13131del (p.Pro4378fs) rs2102665766
NM_206933.4(USH2A):c.13167_13170del (p.Lys4388_Tyr4389insTer)
NM_206933.4(USH2A):c.13189G>T (p.Glu4397Ter)
NM_206933.4(USH2A):c.13208del (p.Gly4403fs)
NM_206933.4(USH2A):c.13210del (p.Leu4404fs) rs1190020491
NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter) rs370176892
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter) rs1657939866
NM_206933.4(USH2A):c.13288_13292del (p.Cys4429_Thr4430insTer)
NM_206933.4(USH2A):c.13301C>G (p.Ser4434Ter)
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.1332dup (p.Thr445fs)
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.13515T>A (p.Tyr4505Ter)
NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)
NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter)
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) rs1485393201
NM_206933.4(USH2A):c.13654T>C (p.Trp4552Arg)
NM_206933.4(USH2A):c.13709del (p.Arg4570fs)
NM_206933.4(USH2A):c.13732_13796dup (p.Lys4600_Pro4601insSerTyrThrTerLys) rs2102664474
NM_206933.4(USH2A):c.13776dup (p.Ser4593fs)
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter)
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) rs2102661317
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) rs1657798642
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.4(USH2A):c.1413dup (p.Asn472Ter)
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.1421dup (p.Ser475fs)
NM_206933.4(USH2A):c.14266_14274delinsTG (p.Ser4756fs)
NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)
NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys) rs750368946
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.4(USH2A):c.14454del (p.Thr4819fs)
NM_206933.4(USH2A):c.144del (p.Val49fs)
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) rs766370703
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14583-1G>T
NM_206933.4(USH2A):c.14591_14594dup (p.Gln4865fs)
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14774del (p.Phe4925fs)
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14791+2T>A rs1553250050
NM_206933.4(USH2A):c.14792-1G>T
NM_206933.4(USH2A):c.1479del (p.Tyr494fs)
NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)
NM_206933.4(USH2A):c.14804_14808del (p.Arg4935fs)
NM_206933.4(USH2A):c.14811del (p.Ser4939fs)
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) rs1656646221
NM_206933.4(USH2A):c.14893_14900del (p.Val4965fs)
NM_206933.4(USH2A):c.14967_14968del (p.Lys4989fs)
NM_206933.4(USH2A):c.14968+1G>C
NM_206933.4(USH2A):c.14969-49_15001delinsAA
NM_206933.4(USH2A):c.14970del (p.Phe4991fs)
NM_206933.4(USH2A):c.14_15insAAGG (p.Leu6fs)
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.4(USH2A):c.15053-5_15059del
NM_206933.4(USH2A):c.15060_15066dup (p.Thr5023fs)
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.15112_15115dup (p.Ser5039fs)
NM_206933.4(USH2A):c.15126_15135del (p.Trp5042fs)
NM_206933.4(USH2A):c.15126del (p.Trp5042fs)
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs)
NM_206933.4(USH2A):c.15297+1G>T rs767630412
NM_206933.4(USH2A):c.15298-2A>C
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs)
NM_206933.4(USH2A):c.15339_15342del (p.Ile5115fs)
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.4(USH2A):c.15388_15389del (p.Asn5130fs)
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.4(USH2A):c.15457_15460dup (p.Lys5154fs)
NM_206933.4(USH2A):c.15465dup (p.Val5156fs) rs769582796
NM_206933.4(USH2A):c.1549del (p.Arg517fs)
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1735dup (p.Ser579fs)
NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del) rs2037015853
NM_206933.4(USH2A):c.1823G>A (p.Cys608Tyr)
NM_206933.4(USH2A):c.1841-1G>A rs2102606531
NM_206933.4(USH2A):c.1849del (p.Cys617fs)
NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs)
NM_206933.4(USH2A):c.1934_1935del (p.Thr645fs)
NM_206933.4(USH2A):c.1965T>G (p.Cys655Trp) rs1558366840
NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs)
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val) rs1360258103
NM_206933.4(USH2A):c.2241C>A (p.Cys747Ter)
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.4(USH2A):c.269A>G (p.Tyr90Cys) rs755435330
NM_206933.4(USH2A):c.288del (p.Tyr97fs) rs2102788658
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.2989G>T (p.Gly997Ter)
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter)
NM_206933.4(USH2A):c.3222G>A (p.Trp1074Ter)
NM_206933.4(USH2A):c.3266T>A (p.Leu1089Ter)
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3502dup (p.Thr1168fs)
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter) rs2102467034
NM_206933.4(USH2A):c.3523C>T (p.Gln1175Ter)
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3594C>G (p.Tyr1198Ter)
NM_206933.4(USH2A):c.3615_3618dup (p.Ile1207fs)
NM_206933.4(USH2A):c.3639dup (p.Ala1214fs)
NM_206933.4(USH2A):c.3663_3664dup (p.Ala1222fs)
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.3718del (p.Gln1240fs)
NM_206933.4(USH2A):c.374del (p.Ala125fs)
NM_206933.4(USH2A):c.3811+1G>A
NM_206933.4(USH2A):c.3811+1G>T
NM_206933.4(USH2A):c.3811+2T>A
NM_206933.4(USH2A):c.3828T>A (p.Tyr1276Ter)
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter) rs2034908815
NM_206933.4(USH2A):c.3840_3841delinsCT (p.Met1280_Arg1281delinsIleTer) rs2102464408
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3891dup (p.Gln1298fs)
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164
NM_206933.4(USH2A):c.4125_4126insA (p.Tyr1376fs)
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter)
NM_206933.4(USH2A):c.4251+1G>T rs878853405
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs) rs1475129324
NM_206933.4(USH2A):c.4396+1G>A
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.4478del (p.Leu1493fs)
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.449T>G (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.4552A>T (p.Lys1518Ter)
NM_206933.4(USH2A):c.4585A>T (p.Lys1529Ter)
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4774del (p.Glu1591_Val1592insTer)
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter) rs769612846
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.486-4_486-2del
NM_206933.4(USH2A):c.4886-1G>A rs1553300340
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
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.4945G>T (p.Gly1649Ter)
NM_206933.4(USH2A):c.497A>G (p.Glu166Gly)
NM_206933.4(USH2A):c.4988-2A>G rs143521854
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5092del (p.Glu1698fs)
NM_206933.4(USH2A):c.5147dup (p.Ala1717fs)
NM_206933.4(USH2A):c.5476_5482dup (p.Asp1828fs)
NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter) rs2102554289
NM_206933.4(USH2A):c.5529dup (p.Gln1844fs)
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter) rs761075303
NM_206933.4(USH2A):c.5552delinsTT (p.Gln1851fs)
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
NM_206933.4(USH2A):c.5572+1G>C
NM_206933.4(USH2A):c.5572+1G>T
NM_206933.4(USH2A):c.5577_5626dup (p.Leu1876delinsSerValValAlaTer)
NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)
NM_206933.4(USH2A):c.5782del (p.Leu1928fs)
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5857+1G>C rs2031604509
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5903del (p.Gly1968fs)
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
NM_206933.4(USH2A):c.6050-2A>G rs772124060
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6163+1G>A rs2030617696
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.4(USH2A):c.6193A>T (p.Lys2065Ter)
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys) rs1553294134
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter) rs755646290
NM_206933.4(USH2A):c.6269T>G (p.Leu2090Ter)
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6325+2T>G
NM_206933.4(USH2A):c.6326-2A>G rs1553287118
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6416dup (p.Gln2140fs)
NM_206933.4(USH2A):c.6451del (p.Val2150_Leu2151insTer) rs2102483177
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.6516del (p.Leu2173fs)
NM_206933.4(USH2A):c.652-1G>A
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)
NM_206933.4(USH2A):c.6569G>A (p.Trp2190Ter)
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6657+1G>T
NM_206933.4(USH2A):c.6657+2T>C
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.6805+1G>T rs1553285919
NM_206933.4(USH2A):c.6827delinsGAAATATGTGAA (p.Leu2276Ter)
NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.69del (p.Tyr24fs) rs2102789194
NM_206933.4(USH2A):c.7018C>T (p.Gln2340Ter)
NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.7059del (p.Arg2354fs)
NM_206933.4(USH2A):c.7120+1G>A rs1667311758
NM_206933.4(USH2A):c.7121-1G>T rs2102499826
NM_206933.4(USH2A):c.7154_7155del (p.Lys2385fs)
NM_206933.4(USH2A):c.725dup (p.Ser243fs) rs1195779037
NM_206933.4(USH2A):c.7305dup (p.Asp2436fs)
NM_206933.4(USH2A):c.7407C>G (p.Tyr2469Ter)
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro) rs2102470142
NM_206933.4(USH2A):c.7451+1G>A rs541848371
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.4(USH2A):c.7588del (p.Glu2530fs) rs1665448415
NM_206933.4(USH2A):c.7595-1G>A rs1553273421
NM_206933.4(USH2A):c.7595-1G>T rs1553273421
NM_206933.4(USH2A):c.7595-2A>G rs1064795047
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter) rs774559456
NM_206933.4(USH2A):c.7788_7799delinsA (p.Tyr2596_Val2600delinsTer)
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
NM_206933.4(USH2A):c.784+14389G>T
NM_206933.4(USH2A):c.7843C>T (p.Gln2615Ter)
NM_206933.4(USH2A):c.789_798del (p.Glu264fs)
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) rs1665132445
NM_206933.4(USH2A):c.7950del (p.Asn2651fs)
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.4(USH2A):c.8024_8025del (p.Leu2675fs)
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter) rs775921966
NM_206933.4(USH2A):c.811C>T (p.Gln271Ter)
NM_206933.4(USH2A):c.8143dup (p.Val2715fs) rs760455927
NM_206933.4(USH2A):c.8223+1G>T
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8386_8389del (p.Cys2796fs)
NM_206933.4(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.848+1G>T rs2102658764
NM_206933.4(USH2A):c.8500G>T (p.Glu2834Ter)
NM_206933.4(USH2A):c.850G>T (p.Glu284Ter)
NM_206933.4(USH2A):c.8557del (p.Arg2853fs)
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8558+5G>A rs746331566
NM_206933.4(USH2A):c.8559-1G>C
NM_206933.4(USH2A):c.8559-1G>T rs1664816177
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8668_8669dup (p.Gly2891fs)
NM_206933.4(USH2A):c.8681+1G>C
NM_206933.4(USH2A):c.8682-2A>C rs1553271002
NM_206933.4(USH2A):c.8845+1G>A rs1553270954
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9055+1G>T
NM_206933.4(USH2A):c.9106_9110del (p.Val3036fs)
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter)
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9258+2T>C
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) rs1558121260
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter) rs1662880750
NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter)
NM_206933.4(USH2A):c.9638del (p.Pro3213fs) rs1662774674
NM_206933.4(USH2A):c.9650dup (p.Asn3217fs)
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) rs1662771528
NM_206933.4(USH2A):c.9723C>A (p.Tyr3241Ter)
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter) rs1662226257
NM_206933.4(USH2A):c.9846T>A (p.Cys3282Ter)
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.987_988insTAA (p.Asn330Ter) rs2102655994
NM_206933.4(USH2A):c.987dup (p.Asn330Ter)
NM_206933.4(USH2A):c.9894_9895del (p.Gln3298fs)
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) rs2039690812
NM_206933.4(USH2A):c.9911T>G (p.Leu3304Ter)
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
NM_206933.4(USH2A):c.9919T>A (p.Cys3307Ser) rs1553263572
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.9959-2A>G rs1661946523
NM_206933.4(USH2A):c.9959-4159A>G rs1662067653
NM_206933.4(USH2A):c.9959del
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.999dup (p.Arg334fs)

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