ClinVar Miner

List of variants in gene USH2A reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 164
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
NM_007123.5(USH2A):c.1377T>A (p.Pro459=) rs1064797140
NM_007123.5(USH2A):c.146T>A (p.Val49Asp) rs1553258115
NM_007123.5(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_007123.5(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_007123.5(USH2A):c.1672G>A (p.Asp558Asn) rs1553327490
NM_007123.5(USH2A):c.1886G>T (p.Gly629Val) rs754159296
NM_007123.5(USH2A):c.2202A>G (p.Lys734=) rs1416725341
NM_007123.5(USH2A):c.2218A>T (p.Asn740Tyr) rs1229489278
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.2416A>G (p.Thr806Ala) rs1057519163
NM_007123.5(USH2A):c.2777G>T (p.Arg926Leu) rs146916397
NM_007123.5(USH2A):c.2999A>C (p.Gln1000Pro) rs1486615749
NM_007123.5(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_007123.5(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531
NM_007123.5(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10413A>G (p.Thr3471=) rs530322386
NM_206933.3(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
NM_206933.3(USH2A):c.10693T>C (p.Tyr3565His) rs1553261365
NM_206933.3(USH2A):c.11013T>G (p.Pro3671=) rs777699434
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.3(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.3(USH2A):c.13004C>A (p.Ala4335Asp) rs771748964
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.3(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14408T>C (p.Ile4803Thr) rs1056524280
NM_206933.3(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691
NM_206933.3(USH2A):c.15238G>T (p.Val5080Leu) rs1558031463
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.253A>G (p.Ile85Val) rs770983063
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.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.3(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.3(USH2A):c.4646G>C (p.Arg1549Pro) rs190170807
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.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167+1G>C rs794727408
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079
NM_206933.3(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.5921C>T (p.Thr1974Ile) rs1558241630
NM_206933.3(USH2A):c.6032A>G (p.Asn2011Ser) rs1371723634
NM_206933.3(USH2A):c.6554A>G (p.His2185Arg) rs1064797135
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8634_8637TATT[3] (p.Ser2881fs) rs1553272035
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8710G>A (p.Val2904Ile) rs142649882
NM_206933.3(USH2A):c.8845+4A>G rs1057519222
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.3(USH2A):c.9356G>A (p.Arg3119His) rs199885325
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.3(USH2A):c.9993G>A (p.Met3331Ile) rs1255334312
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10627_10628insA (p.Arg3543fs)
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.1116A>T (p.Ser372=) rs754923350
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys) rs1571702162
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2062C>T (p.Pro688Ser) rs1571622927
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.2332G>T (p.Asp778Tyr) rs142898216
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.6125_6126AG[3] (p.Ser2043fs)
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6597T>A (p.Leu2199=)
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.4(USH2A):c.6990del (p.Gly2331fs)
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=) rs1305453013
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg) rs1281049882
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.4(USH2A):c.9372-4G>A rs199953845
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.991_992AG[1] (p.Arg331fs) rs1571703801

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