ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
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.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.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.3664G>A (p.Ala1222Thr) rs761752531
NM_007123.5(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
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.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
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.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.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.2953T>C (p.Cys985Arg) rs1171264735
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.5608C>T (p.Arg1870Trp) rs144768593
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.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8710G>A (p.Val2904Ile) rs142649882
NM_206933.3(USH2A):c.8845+4A>G rs1057519222
NM_206933.3(USH2A):c.9356G>A (p.Arg3119His) rs199885325
NM_206933.3(USH2A):c.9993G>A (p.Met3331Ile) rs1255334312
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
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.12575G>A (p.Arg4192His) rs199605265
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.14413G>A (p.Val4805Ile) rs147532612
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.2062C>T (p.Pro688Ser) rs1571622927
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.4562G>A (p.Arg1521His)
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
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.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg) rs1281049882
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.4(USH2A):c.9372-4G>A rs199953845

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