ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter) rs121912598 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00002
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-1G>A rs397517977 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) rs769198746 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9372-1G>A rs1558111861 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter) rs760858249 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
GRCh37/hg19 1q41(chr1:216138660-216270555)
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000001.11:g.(?_216270461)_(216260162_?)del
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.2(USH2A):c.850_853delGAGA
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
NM_206933.4(USH2A):c.10388-1G>A rs1553261478
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) rs1571657777
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs) rs1659881415
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter) rs757525434
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) rs1293619630
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) rs1657929865
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)
NM_206933.4(USH2A):c.13599del (p.Met4535fs) rs2102664886
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter) rs2102664776
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14134-1G>T
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
NM_206933.4(USH2A):c.14649del (p.Ile4883fs) rs1656901821
NM_206933.4(USH2A):c.14835del (p.Val4946fs) rs2102636076
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.15199del (p.Ile5067fs) rs2102630527
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter) rs1426135314
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) rs1195403033
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter) rs2102788946
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.4(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter) rs2034908088
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.3934del (p.Ala1312fs) rs2102464166
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) rs1308702971
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)
NM_206933.4(USH2A):c.4396+2T>G rs2034687381
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_206933.4(USH2A):c.4758+1G>A
NM_206933.4(USH2A):c.485+3A>T rs1553258031
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) rs2032147505
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs) rs2102559650
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs) rs2102554196
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.612dup (p.Arg205fs) rs2039614529
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs) rs2102524828
NM_206933.4(USH2A):c.6325+1G>A rs1293202153
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter) rs2102458475
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) rs1667472317
NM_206933.4(USH2A):c.6905del (p.His2302fs) rs2102458388
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter) rs376983577
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs) rs2102451863
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764
NM_206933.4(USH2A):c.8714dup (p.His2905fs) rs2102440764
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411
NM_206933.4(USH2A):c.9538del (p.Cys3180fs) rs36108227
NM_206933.4(USH2A):c.9685del (p.Glu3229fs) rs878853233
NM_206933.4(USH2A):c.9699del (p.His3234fs)
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) rs2102778615
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770

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