ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NM_007123.5(USH2A):c.1181C>G (p.Pro394Arg) rs775922302
NM_007123.5(USH2A):c.1412A>G (p.Tyr471Cys) rs794727938
NM_007123.5(USH2A):c.1510C>A (p.His504Asn) rs533024548
NM_007123.5(USH2A):c.151A>G (p.Ile51Val) rs886043442
NM_007123.5(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_007123.5(USH2A):c.1840+4A>G rs749288291
NM_007123.5(USH2A):c.1891G>A (p.Asp631Asn) rs552400144
NM_007123.5(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_007123.5(USH2A):c.2992A>G (p.Arg998Gly) rs794727135
NM_007123.5(USH2A):c.299T>C (p.Leu100Pro) rs1558082163
NM_007123.5(USH2A):c.3169C>G (p.Gln1057Glu) rs1558317549
NM_007123.5(USH2A):c.3316+6T>C rs373631038
NM_007123.5(USH2A):c.3317-8C>A rs886044611
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3861A>G (p.Lys1287=) rs750789180
NM_007123.5(USH2A):c.3887T>C (p.Val1296Ala) rs552551256
NM_007123.5(USH2A):c.4071G>A (p.Thr1357=) rs745962568
NM_007123.5(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_007123.5(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_007123.5(USH2A):c.4383A>G (p.Gln1461=) rs978359064
NM_007123.5(USH2A):c.4490C>T (p.Ser1497Phe) rs755482100
NM_007123.5(USH2A):c.792G>A (p.Glu264=) rs886043440
NM_206933.3(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613
NM_206933.3(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
NM_206933.3(USH2A):c.10388-17_10388-7del rs1442627890
NM_206933.3(USH2A):c.10497T>C (p.Pro3499=) rs749177032
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
NM_206933.3(USH2A):c.10901A>G (p.His3634Arg) rs1553261102
NM_206933.3(USH2A):c.10928A>G (p.His3643Arg) rs772499596
NM_206933.3(USH2A):c.11124C>G (p.Pro3708=) rs773828586
NM_206933.3(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857
NM_206933.3(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789
NM_206933.3(USH2A):c.11506C>T (p.Pro3836Ser) rs371987720
NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126
NM_206933.3(USH2A):c.12067-4A>G rs1558051325
NM_206933.3(USH2A):c.12128T>G (p.Val4043Gly) rs376528829
NM_206933.3(USH2A):c.12443T>C (p.Leu4148Pro) rs886042767
NM_206933.3(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804
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.12997C>G (p.Leu4333Val) rs770620234
NM_206933.3(USH2A):c.13078A>G (p.Ser4360Gly) rs794727825
NM_206933.3(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.3(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013
NM_206933.3(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345
NM_206933.3(USH2A):c.13586C>T (p.Pro4529Leu) rs754560573
NM_206933.3(USH2A):c.14073C>T (p.Asn4691=) rs370364142
NM_206933.3(USH2A):c.1438G>A (p.Val480Ile) rs138694314
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14760C>T (p.Ser4920=) rs778669346
NM_206933.3(USH2A):c.14832G>T (p.Leu4944Phe) rs556415914
NM_206933.3(USH2A):c.15306C>G (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.15306C>T (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_206933.3(USH2A):c.4016T>G (p.Val1339Gly) rs781668118
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.3(USH2A):c.4803A>T (p.Gln1601His) rs761306493
NM_206933.3(USH2A):c.4882A>T (p.Thr1628Ser) rs794727386
NM_206933.3(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5111A>T (p.Asn1704Ile) rs764080143
NM_206933.3(USH2A):c.5265C>T (p.Phe1755=) rs147371835
NM_206933.3(USH2A):c.5359G>A (p.Val1787Met) rs1558246687
NM_206933.3(USH2A):c.5410A>G (p.Ile1804Val) rs201804063
NM_206933.3(USH2A):c.5619C>T (p.Val1873=) rs138416665
NM_206933.3(USH2A):c.5802G>A (p.Ser1934=) rs149776188
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291
NM_206933.3(USH2A):c.6094C>T (p.Leu2032=) rs1385829693
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6175G>A (p.Val2059Ile) rs767444125
NM_206933.3(USH2A):c.6225G>C (p.Trp2075Cys) rs1553294134
NM_206933.3(USH2A):c.6581A>G (p.Tyr2194Cys) rs1553286786
NM_206933.3(USH2A):c.6618A>G (p.Gln2206=) rs745614158
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6958-10A>G rs727504213
NM_206933.3(USH2A):c.6988G>A (p.Glu2330Lys) rs926377709
NM_206933.3(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178
NM_206933.3(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577
NM_206933.3(USH2A):c.7206G>A (p.Leu2402=) rs201731826
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7527G>T (p.Arg2509=) rs575939496
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.7573C>A (p.Pro2525Thr) rs762553660
NM_206933.3(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637
NM_206933.3(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.3(USH2A):c.8016G>A (p.Leu2672=) rs368327746
NM_206933.3(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.3(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392
NM_206933.3(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292
NM_206933.3(USH2A):c.8778G>A (p.Glu2926=) rs374146074
NM_206933.3(USH2A):c.8815A>G (p.Thr2939Ala) rs1314306343
NM_206933.3(USH2A):c.8856C>T (p.Asp2952=) rs149306655
NM_206933.3(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.3(USH2A):c.9008T>C (p.Val3003Ala) rs138574386
NM_206933.3(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671
NM_206933.3(USH2A):c.9286G>A (p.Val3096Met) rs147267500
NM_206933.3(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133
NM_206933.3(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363
NM_206933.3(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9958+8G>T rs370383574
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452
NM_206933.4(USH2A):c.8559-7G>A rs199618999
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000

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