ClinVar Miner

List of variants in gene USH2A reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 370
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00117
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00076
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00066
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013 0.00054
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00050
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu) rs145114751 0.00048
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467 0.00033
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00027
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) rs138640647 0.00025
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016 0.00023
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys) rs140983855 0.00021
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452 0.00019
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00017
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392 0.00016
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671 0.00016
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00015
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys) rs200289497 0.00013
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn) rs756423843 0.00013
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg) rs376314751 0.00013
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00013
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly) rs77797012 0.00012
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser) rs371987720 0.00010
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile) rs149647002 0.00010
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) rs557642490 0.00010
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) rs145148501 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 0.00010
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser) rs139089840 0.00009
NM_206933.4(USH2A):c.7471G>T (p.Ala2491Ser) rs781176946 0.00009
NM_206933.4(USH2A):c.7472C>T (p.Ala2491Val) rs1232885353 0.00009
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg) rs139649540 0.00009
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val) rs868179223 0.00008
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) rs371685066 0.00008
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln) rs748137104 0.00008
NM_206933.4(USH2A):c.14380G>A (p.Gly4794Ser) rs138488003 0.00007
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp) rs750218932 0.00007
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.2942G>A (p.Arg981His) rs574882069 0.00006
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln) rs200348779 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu) rs373034742 0.00006
NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala) rs142594852 0.00005
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met) rs374654481 0.00005
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly) rs753823008 0.00005
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) rs370127889 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.5845A>G (p.Thr1949Ala) rs371702422 0.00005
NM_206933.4(USH2A):c.5876C>T (p.Thr1959Ile) rs569113276 0.00005
NM_206933.4(USH2A):c.8945A>T (p.His2982Leu) rs370261062 0.00005
NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys) rs202172477 0.00004
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys) rs139997881 0.00004
NM_206933.4(USH2A):c.13936C>A (p.Pro4646Thr) rs751304353 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14686C>T (p.Leu4896Phe) rs577860868 0.00004
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) rs753175395 0.00004
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) rs752059469 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg) rs370643158 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_206933.4(USH2A):c.10509T>A (p.Ser3503Arg) rs139502089 0.00003
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala) rs754979740 0.00003
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly) rs376528829 0.00003
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg) rs200202244 0.00003
NM_206933.4(USH2A):c.12979T>G (p.Ser4327Ala) rs767639632 0.00003
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826 0.00003
NM_206933.4(USH2A):c.14293G>A (p.Val4765Ile) rs530395989 0.00003
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met) rs201726258 0.00003
NM_206933.4(USH2A):c.1652G>A (p.Arg551His) rs746477843 0.00003
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp) rs370882987 0.00003
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val) rs768141777 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.4377A>G (p.Ala1459=) rs139709410 0.00003
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) rs145647517 0.00003
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp) rs149606872 0.00003
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val) rs373609391 0.00003
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133 0.00003
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg) rs149027999 0.00003
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.11074A>G (p.Ile3692Val) rs758785058 0.00002
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) rs765454203 0.00002
NM_206933.4(USH2A):c.1213A>G (p.Asn405Asp) rs375252709 0.00002
NM_206933.4(USH2A):c.13120G>A (p.Val4374Ile) rs749238147 0.00002
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro) rs143032902 0.00002
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys) rs769560933 0.00002
NM_206933.4(USH2A):c.14261A>C (p.Asn4754Thr) rs776924730 0.00002
NM_206933.4(USH2A):c.14381G>A (p.Gly4794Asp) rs767808761 0.00002
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys) rs750887508 0.00002
NM_206933.4(USH2A):c.15376A>T (p.Ile5126Phe) rs1027282224 0.00002
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His) rs761306493 0.00002
NM_206933.4(USH2A):c.5063G>T (p.Trp1688Leu) rs1223810066 0.00002
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) rs777886737 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val) rs772409181 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala) rs759063087 0.00002
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr) rs377309313 0.00002
NM_206933.4(USH2A):c.8702T>C (p.Met2901Thr) rs367653006 0.00002
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala) rs1661940699 0.00001
NM_206933.4(USH2A):c.10162T>C (p.Ser3388Pro) rs1202981852 0.00001
NM_206933.4(USH2A):c.10194G>T (p.Glu3398Asp) rs753372521 0.00001
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly) rs141098637 0.00001
NM_206933.4(USH2A):c.10604T>A (p.Ile3535Asn) rs1179621516 0.00001
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) rs763125604 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.11367A>G (p.Ile3789Met) rs1295745243 0.00001
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met) rs200521328 0.00001
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) rs772969352 0.00001
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys) rs370339612 0.00001
NM_206933.4(USH2A):c.12304A>G (p.Ile4102Val) rs377354842 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.13006T>C (p.Cys4336Arg) rs1325681486 0.00001
NM_206933.4(USH2A):c.13162A>G (p.Lys4388Glu) rs374655377 0.00001
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile) rs772298519 0.00001
NM_206933.4(USH2A):c.1336C>T (p.Pro446Ser) rs755408175 0.00001
NM_206933.4(USH2A):c.13376C>T (p.Ser4459Leu) rs1300378579 0.00001
NM_206933.4(USH2A):c.13568T>C (p.Val4523Ala) rs547421744 0.00001
NM_206933.4(USH2A):c.14054A>T (p.Asn4685Ile) rs188674785 0.00001
NM_206933.4(USH2A):c.14269G>A (p.Ala4757Thr) rs1455302915 0.00001
NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg) rs760126706 0.00001
NM_206933.4(USH2A):c.14533G>A (p.Ala4845Thr) rs373972698 0.00001
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686 0.00001
NM_206933.4(USH2A):c.14893G>C (p.Val4965Leu) rs149289393 0.00001
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) rs533024548 0.00001
NM_206933.4(USH2A):c.15118G>A (p.Glu5040Lys) rs969737676 0.00001
NM_206933.4(USH2A):c.15313A>G (p.Lys5105Glu) rs1656169768 0.00001
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) rs759899869 0.00001
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser) rs1339774081 0.00001
NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile) rs1558253732 0.00001
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.2111G>A (p.Gly704Glu) rs1039358341 0.00001
NM_206933.4(USH2A):c.2161G>A (p.Val721Ile) rs776935886 0.00001
NM_206933.4(USH2A):c.265C>T (p.Pro89Ser) rs758792895 0.00001
NM_206933.4(USH2A):c.2869G>A (p.Gly957Ser) rs764136752 0.00001
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) rs779811357 0.00001
NM_206933.4(USH2A):c.3019T>A (p.Ser1007Thr) rs371711993 0.00001
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) rs751890894 0.00001
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val) rs1318186049 0.00001
NM_206933.4(USH2A):c.349C>T (p.His117Tyr) rs372053865 0.00001
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala) rs771787208 0.00001
NM_206933.4(USH2A):c.3836A>G (p.Tyr1279Cys) rs755534646 0.00001
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) rs780574336 0.00001
NM_206933.4(USH2A):c.4014A>T (p.Arg1338Ser) rs1216480885 0.00001
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe) rs994400152 0.00001
NM_206933.4(USH2A):c.4199A>G (p.Asn1400Ser) rs774831710 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4548G>A (p.Met1516Ile) rs879342185 0.00001
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp) rs746010533 0.00001
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu) rs144213699 0.00001
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys) rs375519871 0.00001
NM_206933.4(USH2A):c.5324C>A (p.Thr1775Asn) rs1324420865 0.00001
NM_206933.4(USH2A):c.5436A>G (p.Ile1812Met) rs760159684 0.00001
NM_206933.4(USH2A):c.5524A>G (p.Ile1842Val) rs2031814598 0.00001
NM_206933.4(USH2A):c.553A>G (p.Met185Val) rs770266757 0.00001
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp) rs752358054 0.00001
NM_206933.4(USH2A):c.5644G>A (p.Gly1882Ser) rs773098743 0.00001
NM_206933.4(USH2A):c.5730G>C (p.Gln1910His) rs1024370749 0.00001
NM_206933.4(USH2A):c.6313T>C (p.Tyr2105His) rs2030524278 0.00001
NM_206933.4(USH2A):c.650A>C (p.Gln217Pro) rs1448586895 0.00001
NM_206933.4(USH2A):c.6598T>C (p.Phe2200Leu) rs763649865 0.00001
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) rs1047559421 0.00001
NM_206933.4(USH2A):c.6673G>A (p.Gly2225Arg) rs138340157 0.00001
NM_206933.4(USH2A):c.6674G>A (p.Gly2225Glu) rs763755886 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr) rs750302027 0.00001
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser) rs150634036 0.00001
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln) rs772014718 0.00001
NM_206933.4(USH2A):c.7292C>A (p.Pro2431His) rs1225732232 0.00001
NM_206933.4(USH2A):c.7448T>G (p.Leu2483Arg) rs371611777 0.00001
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg) rs781685696 0.00001
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala) rs752549947 0.00001
NM_206933.4(USH2A):c.8276T>G (p.Ile2759Ser) rs949022186 0.00001
NM_206933.4(USH2A):c.8891G>T (p.Trp2964Leu) rs1225643014 0.00001
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met) rs901891136 0.00001
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser) rs768579751 0.00001
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) rs766298464 0.00001
NM_206933.4(USH2A):c.9362T>A (p.Ile3121Asn) rs1163341911 0.00001
NM_206933.4(USH2A):c.9484G>A (p.Asp3162Asn) rs1042224866 0.00001
NM_206933.4(USH2A):c.9527C>A (p.Pro3176His) rs1484284714 0.00001
NM_206933.4(USH2A):c.9549T>G (p.Ile3183Met) rs1467970535 0.00001
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln) rs774654676 0.00001
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser) rs779838582 0.00001
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln) rs767694082 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10030T>C (p.Ser3344Pro) rs970163247
NM_206933.4(USH2A):c.10057C>A (p.Pro3353Thr)
NM_206933.4(USH2A):c.10058C>A (p.Pro3353Gln)
NM_206933.4(USH2A):c.10165A>G (p.Thr3389Ala) rs1341186496
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser) rs2464408278
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met) rs1571686105
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu) rs1553261476
NM_206933.4(USH2A):c.10424G>A (p.Arg3475Lys) rs1661684078
NM_206933.4(USH2A):c.10533C>A (p.Asp3511Glu)
NM_206933.4(USH2A):c.10609C>A (p.Leu3537Ile)
NM_206933.4(USH2A):c.10742T>C (p.Val3581Ala) rs1571679370
NM_206933.4(USH2A):c.10904C>G (p.Thr3635Ser) rs727505166
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) rs2102742330
NM_206933.4(USH2A):c.11080A>G (p.Asn3694Asp)
NM_206933.4(USH2A):c.11127T>G (p.Asn3709Lys) rs149260119
NM_206933.4(USH2A):c.11187T>A (p.Ser3729Arg) rs2465090817
NM_206933.4(USH2A):c.11360A>C (p.Tyr3787Ser) rs2465089001
NM_206933.4(USH2A):c.1136A>T (p.Gln379Leu)
NM_206933.4(USH2A):c.11372T>G (p.Val3791Gly) rs758024950
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.11564G>A (p.Ser3855Asn)
NM_206933.4(USH2A):c.11846G>T (p.Gly3949Val) rs1558072174
NM_206933.4(USH2A):c.11916G>T (p.Trp3972Cys)
NM_206933.4(USH2A):c.1193G>A (p.Arg398Lys)
NM_206933.4(USH2A):c.11996G>A (p.Arg3999His) rs367631313
NM_206933.4(USH2A):c.12029C>T (p.Thr4010Ile)
NM_206933.4(USH2A):c.12050A>G (p.His4017Arg) rs1237304700
NM_206933.4(USH2A):c.12203G>A (p.Gly4068Glu)
NM_206933.4(USH2A):c.12214T>C (p.Phe4072Leu) rs2464914790
NM_206933.4(USH2A):c.12242G>C (p.Arg4081Pro)
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys) rs770065010
NM_206933.4(USH2A):c.12611C>T (p.Thr4204Ile)
NM_206933.4(USH2A):c.12619G>A (p.Ala4207Thr)
NM_206933.4(USH2A):c.12661A>G (p.Asn4221Asp)
NM_206933.4(USH2A):c.1304C>G (p.Ser435Cys)
NM_206933.4(USH2A):c.13184A>C (p.Asn4395Thr)
NM_206933.4(USH2A):c.13198G>A (p.Ala4400Thr) rs541022183
NM_206933.4(USH2A):c.13254C>A (p.Asn4418Lys)
NM_206933.4(USH2A):c.13278T>A (p.Asn4426Lys) rs2464896128
NM_206933.4(USH2A):c.13338C>G (p.Asn4446Lys)
NM_206933.4(USH2A):c.1349G>T (p.Gly450Val) rs2527434496
NM_206933.4(USH2A):c.13523C>T (p.Thr4508Ile)
NM_206933.4(USH2A):c.13529C>A (p.Thr4510Asn) rs2464894784
NM_206933.4(USH2A):c.13553T>C (p.Ile4518Thr) rs2464894689
NM_206933.4(USH2A):c.13660C>T (p.Pro4554Ser) rs367673219
NM_206933.4(USH2A):c.13699C>T (p.Leu4567Phe)
NM_206933.4(USH2A):c.13814A>G (p.Tyr4605Cys) rs1657808228
NM_206933.4(USH2A):c.1403A>G (p.Asn468Ser)
NM_206933.4(USH2A):c.14210G>T (p.Gly4737Val) rs1166684125
NM_206933.4(USH2A):c.14232T>A (p.His4744Gln) rs1657036461
NM_206933.4(USH2A):c.14240C>G (p.Ser4747Cys)
NM_206933.4(USH2A):c.14281C>A (p.Pro4761Thr)
NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg) rs147037435
NM_206933.4(USH2A):c.1439T>G (p.Val480Gly)
NM_206933.4(USH2A):c.14407A>G (p.Ile4803Val)
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys) rs200570742
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.14699A>G (p.Gln4900Arg) rs766670130
NM_206933.4(USH2A):c.14711C>T (p.Thr4904Ile)
NM_206933.4(USH2A):c.14767A>G (p.Ile4923Val) rs1218896561
NM_206933.4(USH2A):c.14861C>G (p.Thr4954Ser)
NM_206933.4(USH2A):c.14866C>T (p.Leu4956Phe) rs773797360
NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln) rs776924838
NM_206933.4(USH2A):c.15043A>G (p.Thr5015Ala)
NM_206933.4(USH2A):c.15086G>A (p.Gly5029Glu)
NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala) rs2464738796
NM_206933.4(USH2A):c.1685G>T (p.Arg562Leu)
NM_206933.4(USH2A):c.1786G>A (p.Glu596Lys) rs2037015194
NM_206933.4(USH2A):c.1820A>T (p.Asp607Val) rs2528256285
NM_206933.4(USH2A):c.1874T>C (p.Phe625Ser) rs2528250664
NM_206933.4(USH2A):c.1891G>T (p.Asp631Tyr) rs552400144
NM_206933.4(USH2A):c.1949A>C (p.Asn650Thr)
NM_206933.4(USH2A):c.1993A>G (p.Lys665Glu) rs749791724
NM_206933.4(USH2A):c.2105T>A (p.Val702Glu)
NM_206933.4(USH2A):c.2228G>A (p.Gly743Glu)
NM_206933.4(USH2A):c.2284C>T (p.His762Tyr)
NM_206933.4(USH2A):c.2286C>G (p.His762Gln)
NM_206933.4(USH2A):c.2881C>T (p.His961Tyr)
NM_206933.4(USH2A):c.2906A>G (p.Gln969Arg)
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly) rs150729680
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val) rs150729680
NM_206933.4(USH2A):c.3061T>C (p.Cys1021Arg)
NM_206933.4(USH2A):c.3065T>C (p.Phe1022Ser)
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) rs1396798963
NM_206933.4(USH2A):c.3248A>G (p.His1083Arg)
NM_206933.4(USH2A):c.3280T>A (p.Phe1094Ile) rs2528065263
NM_206933.4(USH2A):c.3311C>G (p.Pro1104Arg) rs778168432
NM_206933.4(USH2A):c.335A>G (p.Asp112Gly) rs2527654239
NM_206933.4(USH2A):c.3599G>C (p.Gly1200Ala)
NM_206933.4(USH2A):c.3620T>A (p.Ile1207Asn) rs2102466754
NM_206933.4(USH2A):c.3638T>C (p.Phe1213Ser) rs2528046039
NM_206933.4(USH2A):c.3640G>A (p.Ala1214Thr) rs754980255
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val) rs989235522
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.3901G>A (p.Gly1301Ser) rs2528041788
NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala) rs1224233557
NM_206933.4(USH2A):c.4009T>A (p.Phe1337Ile) rs2034901487
NM_206933.4(USH2A):c.4094T>C (p.Met1365Thr) rs1333822282
NM_206933.4(USH2A):c.4100C>A (p.Pro1367His) rs2034854003
NM_206933.4(USH2A):c.4140C>G (p.Ile1380Met)
NM_206933.4(USH2A):c.4226A>G (p.Gln1409Arg)
NM_206933.4(USH2A):c.4288A>G (p.Thr1430Ala) rs2528020391
NM_206933.4(USH2A):c.4649C>G (p.Thr1550Arg)
NM_206933.4(USH2A):c.4739A>G (p.Tyr1580Cys) rs2527835582
NM_206933.4(USH2A):c.479G>A (p.Gly160Asp) rs2527653392
NM_206933.4(USH2A):c.4918A>G (p.Ile1640Val)
NM_206933.4(USH2A):c.5075A>C (p.Asp1692Ala) rs772976026
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser) rs767820497
NM_206933.4(USH2A):c.5435T>A (p.Ile1812Lys) rs2527792593
NM_206933.4(USH2A):c.5450A>G (p.Asn1817Ser)
NM_206933.4(USH2A):c.5532G>T (p.Gln1844His) rs2527792109
NM_206933.4(USH2A):c.5630C>A (p.Ala1877Glu) rs1263392471
NM_206933.4(USH2A):c.5726A>G (p.Tyr1909Cys) rs761586978
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His) rs149465057
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys) rs750260175
NM_206933.4(USH2A):c.6334G>A (p.Val2112Ile) rs1668245775
NM_206933.4(USH2A):c.6475A>G (p.Ile2159Val)
NM_206933.4(USH2A):c.6509G>A (p.Ser2170Asn) rs1668203975
NM_206933.4(USH2A):c.6523C>T (p.Arg2175Cys)
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser) rs1668200483
NM_206933.4(USH2A):c.6765C>A (p.Asp2255Glu) rs767205760
NM_206933.4(USH2A):c.6857C>T (p.Ser2286Phe)
NM_206933.4(USH2A):c.6874C>A (p.Arg2292Ser)
NM_206933.4(USH2A):c.7123G>A (p.Gly2375Ser) rs1381251611
NM_206933.4(USH2A):c.7129A>G (p.Asn2377Asp)
NM_206933.4(USH2A):c.7166G>A (p.Ser2389Asn) rs761339047
NM_206933.4(USH2A):c.7306G>C (p.Asp2436His)
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) rs1665475399
NM_206933.4(USH2A):c.7406A>G (p.Tyr2469Cys)
NM_206933.4(USH2A):c.7450G>A (p.Glu2484Lys)
NM_206933.4(USH2A):c.7472C>A (p.Ala2491Glu) rs1232885353
NM_206933.4(USH2A):c.7492A>C (p.Ser2498Arg) rs754310768
NM_206933.4(USH2A):c.7693C>T (p.His2565Tyr)
NM_206933.4(USH2A):c.7697A>G (p.Tyr2566Cys) rs1665140423
NM_206933.4(USH2A):c.7861C>G (p.Pro2621Ala) rs866592974
NM_206933.4(USH2A):c.7907C>T (p.Thr2636Ile) rs764922996
NM_206933.4(USH2A):c.8209C>A (p.Pro2737Thr) rs891284475
NM_206933.4(USH2A):c.8249A>G (p.Gln2750Arg)
NM_206933.4(USH2A):c.8318C>G (p.Ser2773Cys) rs1413784848
NM_206933.4(USH2A):c.8344C>T (p.His2782Tyr) rs1236909597
NM_206933.4(USH2A):c.8462C>T (p.Pro2821Leu)
NM_206933.4(USH2A):c.8495T>C (p.Leu2832Pro) rs2464716483
NM_206933.4(USH2A):c.8548C>T (p.Pro2850Ser)
NM_206933.4(USH2A):c.8671G>T (p.Gly2891Cys)
NM_206933.4(USH2A):c.868T>G (p.Ser290Ala) rs746122630
NM_206933.4(USH2A):c.8734C>G (p.Pro2912Ala)
NM_206933.4(USH2A):c.8767G>T (p.Gly2923Cys)
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu) rs746586128
NM_206933.4(USH2A):c.8789A>T (p.Asn2930Ile) rs778607993
NM_206933.4(USH2A):c.8854G>T (p.Asp2952Tyr) rs2464612464
NM_206933.4(USH2A):c.8905T>A (p.Ser2969Thr) rs1663833871
NM_206933.4(USH2A):c.8908A>C (p.Asn2970His) rs1663833792
NM_206933.4(USH2A):c.9049G>C (p.Asp3017His) rs1222358142
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9181C>A (p.Leu3061Ile) rs1289191224
NM_206933.4(USH2A):c.9248A>T (p.Tyr3083Phe) rs768354522
NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr) rs373286445
NM_206933.4(USH2A):c.92C>T (p.Thr31Ile) rs750745352
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9425G>T (p.Gly3142Val) rs1003254008
NM_206933.4(USH2A):c.9446C>G (p.Thr3149Arg)
NM_206933.4(USH2A):c.9745G>C (p.Val3249Leu) rs1662226899
NM_206933.4(USH2A):c.9762A>C (p.Glu3254Asp) rs2464455509
NM_206933.4(USH2A):c.9986T>A (p.Val3329Glu)

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