ClinVar Miner

List of variants in gene USH2A reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 97
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HGVS dbSNP
NM_007123.5(USH2A):c.2167+17A>G rs181777364
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.4457= (p.Lys1486=) rs1805049
NM_007123.5(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12122T>C (p.Ile4041Thr) rs1558051246
NM_206933.3(USH2A):c.12273G>A (p.Met4091Ile) rs751834009
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12612= (p.Thr4204=) rs2797235
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.15581G>T (p.Arg5194Leu) rs727505155
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4680A>C (p.Ala1560=) rs1233583863
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.3(USH2A):c.5698T>C (p.Cys1900Arg) rs201026468
NM_206933.3(USH2A):c.5857+17A>C rs74766738
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964
NM_206933.3(USH2A):c.6462G>A (p.Leu2154=) rs1558203898
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.8681+18A>G rs41277198
NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.3(USH2A):c.9258+3T>C rs1553268427
NM_206933.3(USH2A):c.9415A>G (p.Ile3139Val) rs750899958
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) rs1571678968
NM_206933.4(USH2A):c.11389+9A>T rs12095085
NM_206933.4(USH2A):c.11390-10C>T rs750110818
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
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.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
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.504A>G (p.Thr168=) rs4253963
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5572+15G>A rs17026052
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile)
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu)
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194

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