ClinVar Miner

List of variants in gene USH2A reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_206933.4(USH2A):c.4457= (p.Arg1486=) rs1805049 0.37586
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_206933.4(USH2A):c.6317= (p.Ile2106=) rs6657250 0.32217
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.12612= (p.Thr4204=) rs2797235 0.25079
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_206933.4(USH2A):c.11389+9A>T rs12095085 0.12571
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_206933.4(USH2A):c.6957+19A>G rs6689120 0.09761
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_206933.4(USH2A):c.652-80T>C rs45594833 0.05185
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_206933.4(USH2A):c.8681+120G>A rs56301415 0.04758
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_206933.4(USH2A):c.5857+17A>C rs74766738 0.01694
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_206933.4(USH2A):c.8681+18A>G rs41277198 0.01418
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.7301-65C>T rs41277204 0.01115
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.8558+40C>A rs55713064 0.00762
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_206933.4(USH2A):c.9959-11T>G rs116150014 0.00724
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707 0.00683
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305 0.00441
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883 0.00438
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) rs111033505 0.00418
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872 0.00393
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_206933.4(USH2A):c.15053-18T>G rs138178390 0.00155
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_206933.4(USH2A):c.6486-18G>A rs370809079 0.00118
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_206933.4(USH2A):c.3157+12C>T rs199853422 0.00088
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) rs149570469 0.00057
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_206933.4(USH2A):c.785-16_785-15del rs150209313 0.00051
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) rs200243588 0.00026
NM_206933.4(USH2A):c.12315C>T (p.Asp4105=) rs755072275 0.00024
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_206933.4(USH2A):c.15053-4G>T rs753732714 0.00020
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_206933.4(USH2A):c.6958-5C>T rs147914083 0.00010
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 0.00010
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.10183-12C>T rs747413632 0.00002
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_206933.4(USH2A):c.10388-11dup rs770615998
NM_206933.4(USH2A):c.10939+19del rs751350899
NM_206933.4(USH2A):c.10939+19dup rs751350899
NM_206933.4(USH2A):c.11389+12_11389+14del rs79494833
NM_206933.4(USH2A):c.11389+13_11389+14dup rs79494833
NM_206933.4(USH2A):c.11389+14del rs79494833
NM_206933.4(USH2A):c.11389+3dup rs79494833
NM_206933.4(USH2A):c.11390-24CT[10] rs140003076
NM_206933.4(USH2A):c.11390-24CT[11] rs140003076
NM_206933.4(USH2A):c.11390-24CT[8] rs140003076
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.11549-6_11549-5del rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.1328+37_1328+40del rs145313346
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=) rs373694614
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.15520-4dup rs1456785856
NM_206933.4(USH2A):c.1644+14dup
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.1645-8dup rs763490382
NM_206933.4(USH2A):c.2168-20del
NM_206933.4(USH2A):c.2168-9dup rs1431123329
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.3317-25dup rs376363548
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=) rs376090043
NM_206933.4(USH2A):c.4081+17del
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.486-17del
NM_206933.4(USH2A):c.5167+15A>C rs533195236
NM_206933.4(USH2A):c.5299-15dup rs778186770
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=) rs560847831
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.7120+13del
NM_206933.4(USH2A):c.7121-14del rs536181325
NM_206933.4(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.4(USH2A):c.8682-12del
NM_206933.4(USH2A):c.8682-19del
NM_206933.4(USH2A):c.8682-25dup rs781675282
NM_206933.4(USH2A):c.9259-19dup
NM_206933.4(USH2A):c.9958+8del rs1226212384

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.