ClinVar Miner

List of variants in gene USH2A reported as benign for Usher syndrome, type 2A

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Gene type:
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Total variants: 92
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HGVS dbSNP
NM_007123.5(USH2A):c.*1024T>C rs439940
NM_007123.5(USH2A):c.*1128G>T rs401269
NM_007123.5(USH2A):c.*131T>G rs55761862
NM_007123.5(USH2A):c.*685C>A rs59704861
NM_007123.5(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.11549-5del rs34565443
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654
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.11928G>A (p.Thr3976=) rs55961436
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923
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.1419C>T (p.Thr473=) rs1805050
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083
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.15076A>G (p.Lys5026Glu) rs41308435
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
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.3812-8T>G rs646094
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.4(USH2A):c.4252-15dup
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.4(USH2A):c.4627+32G>T
NM_206933.4(USH2A):c.4627+48A>T
NM_206933.4(USH2A):c.4627+641G>A
NM_206933.4(USH2A):c.4758+3A>G rs117798425
NM_206933.4(USH2A):c.486-13G>A rs116367260
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532
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.6875G>A (p.Arg2292His) rs41277210
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305
NM_206933.4(USH2A):c.7451+3G>A rs397518030
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.4(USH2A):c.848+5G>C rs74329863
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250

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