ClinVar Miner

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

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Gene type:
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Total variants: 76
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
NM_007123.5(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.2(USH2A):c.10413A>G (p.Thr3471=) rs530322386
NM_206933.2(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.2(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
NM_206933.2(USH2A):c.10693T>C (p.Tyr3565His) rs1553261365
NM_206933.2(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.11013T>G (p.Pro3671=) rs777699434
NM_206933.2(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.2(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.2(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.2(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.2(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.2(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.2(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.2(USH2A):c.13004C>A (p.Ala4335Asp) rs771748964
NM_206933.2(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.2(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.2(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.2(USH2A):c.1377T>A (p.Pro459=) rs1064797140
NM_206933.2(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.2(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.2(USH2A):c.14408T>C (p.Ile4803Thr) rs1056524280
NM_206933.2(USH2A):c.146T>A (p.Val49Asp) rs1553258115
NM_206933.2(USH2A):c.15353del (p.Asn5118Thrfs) rs1553248224
NM_206933.2(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.2(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.2(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.2(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.2(USH2A):c.1672G>A (p.Asp558Asn) rs1553327490
NM_206933.2(USH2A):c.1886G>T (p.Gly629Val) rs754159296
NM_206933.2(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.2(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.2(USH2A):c.2416A>G (p.Thr806Ala) rs1057519163
NM_206933.2(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.2(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.2(USH2A):c.2999A>C (p.Gln1000Pro) rs1486615749
NM_206933.2(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.2(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.2(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.2(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.2(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.2(USH2A):c.4646G>C (p.Arg1549Pro) rs190170807
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.2(USH2A):c.5877delT (p.Ser1961Glnfs) rs727505343
NM_206933.2(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.2(USH2A):c.6032A>G (p.Asn2011Ser) rs1371723634
NM_206933.2(USH2A):c.6554A>G (p.His2185Arg) rs1064797135
NM_206933.2(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.2(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.2(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.2(USH2A):c.7301-6C>T rs375499259
NM_206933.2(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.2(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.2(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.2(USH2A):c.8641_8642insTATT (p.Ser2881Leufs) rs1553272035
NM_206933.2(USH2A):c.8710G>A (p.Val2904Ile) rs142649882
NM_206933.2(USH2A):c.8845+4A>G rs1057519222
NM_206933.2(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.2(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.2(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.2(USH2A):c.9993G>A (p.Met3331Ile) rs1255334312
NM_206933.3(USH2A):c.15238G>T (p.Val5080Leu)
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2202A>G (p.Lys734=)
NM_206933.3(USH2A):c.2218A>T (p.Asn740Tyr)
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser)
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2777G>T (p.Arg926Leu)
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg)
NM_206933.3(USH2A):c.3899G>A (p.Ser1300Asn)
NM_206933.3(USH2A):c.5921C>T (p.Thr1974Ile)
NM_206933.3(USH2A):c.9356G>A (p.Arg3119His)

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