ClinVar Miner

List of variants in gene USH2A studied for Inborn genetic diseases

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Gene type:
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Total variants: 173
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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.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452 0.00019
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
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.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn) rs756423843 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.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) rs145148501 0.00010
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 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.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly) rs753823008 0.00006
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) rs370127889 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.10487A>C (p.Glu3496Ala) rs142594852 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys) rs202172477 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) rs753175395 0.00004
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) rs557642490 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.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.5842C>T (p.Arg1948Cys) rs145647517 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.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala) rs754979740 0.00002
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly) rs376528829 0.00002
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) rs533024548 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.10423A>G (p.Arg3475Gly) rs141098637 0.00001
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) rs763125604 0.00001
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) rs765454203 0.00001
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met) rs200521328 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686 0.00001
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) rs759899869 0.00001
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) rs779811357 0.00001
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) rs751890894 0.00001
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) rs780574336 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.553A>G (p.Met185Val) rs770266757 0.00001
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) rs777886737 0.00001
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) rs1047559421 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 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.9095A>G (p.Asn3032Ser) rs768579751 0.00001
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) rs766298464 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)
NM_206933.4(USH2A):c.10162T>C (p.Ser3388Pro)
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser)
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu) rs1553261476
NM_206933.4(USH2A):c.10904C>G (p.Thr3635Ser)
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) rs2102742330
NM_206933.4(USH2A):c.11360A>C (p.Tyr3787Ser)
NM_206933.4(USH2A):c.11372T>G (p.Val3791Gly)
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.11846G>T (p.Gly3949Val)
NM_206933.4(USH2A):c.11996G>A (p.Arg3999His)
NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
NM_206933.4(USH2A):c.1213A>G (p.Asn405Asp)
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
NM_206933.4(USH2A):c.12214T>C (p.Phe4072Leu)
NM_206933.4(USH2A):c.13120G>A (p.Val4374Ile)
NM_206933.4(USH2A):c.13198G>A (p.Ala4400Thr)
NM_206933.4(USH2A):c.13278T>A (p.Asn4426Lys)
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile)
NM_206933.4(USH2A):c.1349G>T (p.Gly450Val)
NM_206933.4(USH2A):c.13529C>A (p.Thr4510Asn)
NM_206933.4(USH2A):c.13660C>T (p.Pro4554Ser)
NM_206933.4(USH2A):c.13814A>G (p.Tyr4605Cys)
NM_206933.4(USH2A):c.14210G>T (p.Gly4737Val)
NM_206933.4(USH2A):c.14232T>A (p.His4744Gln)
NM_206933.4(USH2A):c.14261A>C (p.Asn4754Thr)
NM_206933.4(USH2A):c.14269G>A (p.Ala4757Thr)
NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg)
NM_206933.4(USH2A):c.14293G>A (p.Val4765Ile)
NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg)
NM_206933.4(USH2A):c.14533G>A (p.Ala4845Thr)
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.14699A>G (p.Gln4900Arg)
NM_206933.4(USH2A):c.14767A>G (p.Ile4923Val)
NM_206933.4(USH2A):c.14866C>T (p.Leu4956Phe)
NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln)
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile)
NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala)
NM_206933.4(USH2A):c.1786G>A (p.Glu596Lys)
NM_206933.4(USH2A):c.1820A>T (p.Asp607Val)
NM_206933.4(USH2A):c.2161G>A (p.Val721Ile)
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val) rs150729680
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) rs1396798963
NM_206933.4(USH2A):c.335A>G (p.Asp112Gly)
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
NM_206933.4(USH2A):c.3638T>C (p.Phe1213Ser)
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
NM_206933.4(USH2A):c.3901G>A (p.Gly1301Ser)
NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala)
NM_206933.4(USH2A):c.4014A>T (p.Arg1338Ser)
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
NM_206933.4(USH2A):c.4739A>G (p.Tyr1580Cys)
NM_206933.4(USH2A):c.5075A>C (p.Asp1692Ala)
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
NM_206933.4(USH2A):c.5324C>A (p.Thr1775Asn)
NM_206933.4(USH2A):c.5532G>T (p.Gln1844His)
NM_206933.4(USH2A):c.5730G>C (p.Gln1910His)
NM_206933.4(USH2A):c.5876C>T (p.Thr1959Ile)
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His) rs149465057
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
NM_206933.4(USH2A):c.6313T>C (p.Tyr2105His)
NM_206933.4(USH2A):c.6509G>A (p.Ser2170Asn)
NM_206933.4(USH2A):c.650A>C (p.Gln217Pro)
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
NM_206933.4(USH2A):c.6598T>C (p.Phe2200Leu)
NM_206933.4(USH2A):c.6765C>A (p.Asp2255Glu)
NM_206933.4(USH2A):c.7292C>A (p.Pro2431His)
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) rs1665475399
NM_206933.4(USH2A):c.7448T>G (p.Leu2483Arg)
NM_206933.4(USH2A):c.7471G>T (p.Ala2491Ser)
NM_206933.4(USH2A):c.7472C>A (p.Ala2491Glu)
NM_206933.4(USH2A):c.7472C>T (p.Ala2491Val)
NM_206933.4(USH2A):c.7492A>C (p.Ser2498Arg)
NM_206933.4(USH2A):c.7697A>G (p.Tyr2566Cys)
NM_206933.4(USH2A):c.7861C>G (p.Pro2621Ala)
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
NM_206933.4(USH2A):c.8344C>T (p.His2782Tyr)
NM_206933.4(USH2A):c.8495T>C (p.Leu2832Pro)
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
NM_206933.4(USH2A):c.868T>G (p.Ser290Ala)
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
NM_206933.4(USH2A):c.8789A>T (p.Asn2930Ile)
NM_206933.4(USH2A):c.8854G>T (p.Asp2952Tyr)
NM_206933.4(USH2A):c.8905T>A (p.Ser2969Thr)
NM_206933.4(USH2A):c.8908A>C (p.Asn2970His)
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9181C>A (p.Leu3061Ile)
NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr)
NM_206933.4(USH2A):c.92C>T (p.Thr31Ile)
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9527C>A (p.Pro3176His)
NM_206933.4(USH2A):c.9745G>C (p.Val3249Leu)
NM_206933.4(USH2A):c.9762A>C (p.Glu3254Asp)
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)

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