ClinVar Miner

List of variants in gene USH2A reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NC_000001.10:g.(?_216061768)_(216074247_?)del
NC_000001.10:g.(?_216465507)_(216501006_?)del
NC_000001.10:g.(?_216465517)_(216500996_?)del
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?))
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?))
NM_206933.2(USH2A):c.11048-?_11711+?dup
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.3(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10318del (p.Ile3440fs)
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10388-1G>A rs1553261478
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.3(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.3(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11048-1G>A rs111033414
NM_206933.3(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11145T>A (p.Tyr3715Ter) rs727504608
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11174del (p.Phe3725fs)
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.3(USH2A):c.1143+1G>A rs397517974
NM_206933.3(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.3(USH2A):c.12067-1G>C rs397517977
NM_206933.3(USH2A):c.12067-2A>G rs397517978
NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) rs55921307
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12232_12233GA[1] (p.Asn4079fs) rs398124618
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.1228G>T (p.Glu410Ter)
NM_206933.3(USH2A):c.12295-2A>G rs151148854
NM_206933.3(USH2A):c.12295-3T>A rs111033518
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.3(USH2A):c.12794del (p.Gly4265fs)
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12854G>A (p.Trp4285Ter)
NM_206933.3(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.3(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.13695T>G (p.Tyr4565Ter) rs1553252343
NM_206933.3(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.3(USH2A):c.13711G>T (p.Glu4571Ter) rs751411512
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.3(USH2A):c.14175G>A (p.Trp4725Ter) rs886042722
NM_206933.3(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.3(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.3(USH2A):c.14500_14501TC[1] (p.Pro4835fs) rs794727830
NM_206933.3(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.3(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15403del (p.Thr5135fs)
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_206933.3(USH2A):c.1841-2A>G rs397518003
NM_206933.3(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) rs781223647
NM_206933.3(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.3(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2541C>A (p.Cys847Ter) rs727503736
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+2T>A rs1553320397
NM_206933.3(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.3004del (p.Cys1002fs)
NM_206933.3(USH2A):c.3086del (p.Gly1029fs) rs886044060
NM_206933.3(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3224_3225dup (p.Pro1076fs)
NM_206933.3(USH2A):c.3296_3297del (p.Thr1099fs)
NM_206933.3(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.3(USH2A):c.3384_3417del (p.Asn1129fs)
NM_206933.3(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter)
NM_206933.3(USH2A):c.3788G>A (p.Trp1263Ter)
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.3(USH2A):c.4125del (p.Tyr1376fs) rs1064793506
NM_206933.3(USH2A):c.4129_4130TC[4] (p.Asn1379fs) rs397518015
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.3(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.3(USH2A):c.485+3A>T rs1553258031
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.486-1G>C rs876657730
NM_206933.3(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.3(USH2A):c.5858-1G>A rs397518023
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386
NM_206933.3(USH2A):c.6325+1G>A
NM_206933.3(USH2A):c.632G>A (p.Trp211Ter) rs727504893
NM_206933.3(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.6639del (p.Lys2213fs) rs876657732
NM_206933.3(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.3(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.3(USH2A):c.8271T>G (p.Tyr2757Ter)
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8584C>T (p.Gln2862Ter)
NM_206933.3(USH2A):c.8681+1G>A rs876657733
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.9056-2A>G
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9159T>G (p.Tyr3053Ter) rs397518042
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.3(USH2A):c.9304C>T (p.Gln3102Ter) rs397518046
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9371+1G>C rs41308425
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.3(USH2A):c.9390G>A (p.Trp3130Ter) rs886042766
NM_206933.3(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.3(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.3(USH2A):c.9570+1G>A rs760225886
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9676C>T (p.Arg3226Ter)
NM_206933.3(USH2A):c.9685del (p.Glu3229fs) rs878853233
NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) rs141672841

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