ClinVar Miner

List of variants in gene USH2A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP
GRCh38/hg38 1q41(chr1:216092120-216123973)x1
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_007123.5(USH2A):c.4125del (p.Tyr1376fs) rs1064793506
NM_007123.5(USH2A):c.4252-36CTTT[5] rs372388546
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.3(USH2A):c.10183-260A>C rs11804198
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.3(USH2A):c.10585+143A>C rs6665799
NM_206933.3(USH2A):c.10585+211A>G rs12122550
NM_206933.3(USH2A):c.10585+267A>G rs12122543
NM_206933.3(USH2A):c.10609C>T (p.Leu3537Phe) rs138656755
NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843
NM_206933.3(USH2A):c.10741-1G>T rs1064795279
NM_206933.3(USH2A):c.11048-275G>A rs2797227
NM_206933.3(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11231+259A>C rs1832951
NM_206933.3(USH2A):c.11389+233A>G rs2820730
NM_206933.3(USH2A):c.11390-52AT[9] rs376081393
NM_206933.3(USH2A):c.11712-261C>A rs10864191
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) rs55921307
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12271A>G (p.Met4091Val) rs144168442
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12612G>A (p.Thr4204=) rs2797235
NM_206933.3(USH2A):c.12624C>T (p.Asp4208=) rs375223901
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12765G>C (p.Val4255=) rs1361278640
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13811+72G>A rs74527030
NM_206933.3(USH2A):c.13832C>G (p.Ala4611Gly) rs376077079
NM_206933.3(USH2A):c.14134-9T>C rs899521308
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691
NM_206933.3(USH2A):c.147T>C (p.Val49=) rs1553258114
NM_206933.3(USH2A):c.15052+8A>G rs773109018
NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.3(USH2A):c.15144G>C (p.Ala5048=) rs397517998
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2168-282C>A rs404925
NM_206933.3(USH2A):c.2169G>A (p.Gly723=) rs751156464
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.3(USH2A):c.2643G>A (p.Gln881=) rs1286317611
NM_206933.3(USH2A):c.2810-294G>T rs378340
NM_206933.3(USH2A):c.2994-10T>G rs748702655
NM_206933.3(USH2A):c.3157+254G>A rs419767
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3531T>C (p.Gly1177=) rs149570469
NM_206933.3(USH2A):c.3581C>T (p.Pro1194Leu) rs145114751
NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4457A>G (p.Lys1486Arg) rs1805049
NM_206933.3(USH2A):c.4628-63C>T rs7540411
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5298+188T>G rs3925007
NM_206933.3(USH2A):c.5538G>C (p.Leu1846=) rs370356689
NM_206933.3(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5776+2T>C rs866978361
NM_206933.3(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485
NM_206933.3(USH2A):c.6133C>T (p.His2045Tyr) rs749333215
NM_206933.3(USH2A):c.6317C>T (p.Thr2106Ile) rs6657250
NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.6957+19A>G rs6689120
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966
NM_206933.3(USH2A):c.7300+29A>G rs41277208
NM_206933.3(USH2A):c.7300+43C>T rs41277206
NM_206933.3(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7540A>C (p.Asn2514His) rs777618162
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.7594+128C>A rs56074952
NM_206933.3(USH2A):c.7595-1906T>A rs12741197
NM_206933.3(USH2A):c.7595-2A>G rs1064795047
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.8190T>A (p.Pro2730=) rs1553273294
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206933.3(USH2A):c.8681+18A>G rs41277198
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8845+382A>G rs2147912
NM_206933.3(USH2A):c.9371+245C>T rs2027355
NM_206933.3(USH2A):c.9614G>A (p.Arg3205His) rs200726531
NM_206933.3(USH2A):c.9816G>A (p.Pro3272=) rs745566865
NM_206933.3(USH2A):c.9958+246A>C rs11120635
NM_206933.3(USH2A):c.9958+4171T>C rs10746458
NM_206933.3(USH2A):c.9958+6G>A rs1553263549
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) rs1571657777
NM_206933.4(USH2A):c.11389+9A>T rs12095085
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
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.1179A>G (p.Gln393=) rs148447919
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
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.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640
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.12817T>C (p.Tyr4273His) rs79654794
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147
NM_206933.4(USH2A):c.13587del (p.Ser4530fs) rs1571948114
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.13984C>G (p.Gln4662Glu) rs41302237
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
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.14517G>A (p.Thr4839=) rs397517991
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
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.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266
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.1581C>T (p.Cys527=) rs140331348
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2815del (p.Tyr939fs) rs1572074292
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.4(USH2A):c.3158-7A>G rs201558076
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.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.4338_4339del (p.Cys1447fs) rs111033367
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.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.486-1G>C rs876657730
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.5142T>C (p.Asn1714=) rs143546878
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
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.6077A>G (p.Lys2026Arg) rs115039883
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6325+13G>A rs368490585
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090
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.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500
NM_206933.4(USH2A):c.8846-88del rs558614513
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843
NM_206933.4(USH2A):c.9959-11T>G rs116150014
Single allele

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