ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_007123.5(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_206933.3(USH2A):c.10059G>A (p.Pro3353=) rs147842359
NM_206933.3(USH2A):c.10374G>A (p.Thr3458=) rs137963595
NM_206933.3(USH2A):c.1047T>C (p.Asp349=) rs775053681
NM_206933.3(USH2A):c.10740+7G>A rs201206110
NM_206933.3(USH2A):c.10741-8G>A rs369968349
NM_206933.3(USH2A):c.10854C>T (p.Gly3618=) rs1348201363
NM_206933.3(USH2A):c.11103T>C (p.Tyr3701=) rs143453173
NM_206933.3(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139
NM_206933.3(USH2A):c.11859T>C (p.Ser3953=) rs141941454
NM_206933.3(USH2A):c.12399G>A (p.Glu4133=) rs150406015
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12582C>T (p.Cys4194=) rs1571949553
NM_206933.3(USH2A):c.13099G>A (p.Val4367Ile) rs146156360
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.13812-5T>C rs371583628
NM_206933.3(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500
NM_206933.3(USH2A):c.14073C>T (p.Asn4691=) rs370364142
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.15265T>C (p.Leu5089=) rs746439490
NM_206933.3(USH2A):c.15306C>T (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.15432C>T (p.Ser5144=) rs145362017
NM_206933.3(USH2A):c.1761C>T (p.Asn587=) rs1571668714
NM_206933.3(USH2A):c.2365G>A (p.Val789Ile) rs199571930
NM_206933.3(USH2A):c.3327C>T (p.Tyr1109=) rs758705873
NM_206933.3(USH2A):c.3678G>A (p.Gly1226=) rs376090043
NM_206933.3(USH2A):c.432G>A (p.Leu144=) rs760787084
NM_206933.3(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4698G>A (p.Gln1566=) rs143218330
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5265C>T (p.Phe1755=) rs147371835
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.6372A>T (p.Thr2124=) rs548332655
NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6741C>T (p.Pro2247=) rs766287712
NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082
NM_206933.3(USH2A):c.6930G>A (p.Thr2310=) rs146406377
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.7227T>C (p.Thr2409=) rs141917231
NM_206933.3(USH2A):c.723T>C (p.Thr241=) rs571744403
NM_206933.3(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966
NM_206933.3(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301
NM_206933.3(USH2A):c.7416G>A (p.Gln2472=) rs145783712
NM_206933.3(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) 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.7776A>G (p.Pro2592=) rs753565758
NM_206933.3(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534
NM_206933.3(USH2A):c.8064T>C (p.Ser2688=) rs1456443971
NM_206933.3(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235
NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.3(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.3(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671
NM_206933.3(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458
NM_206933.3(USH2A):c.9201T>C (p.Asn3067=) rs764236480
NM_206933.3(USH2A):c.9614G>A (p.Arg3205His) rs200726531
NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813
NM_206933.3(USH2A):c.9906C>T (p.Asn3302=) rs757439664
NM_206933.4(USH2A):c.-4A>G
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
NM_206933.4(USH2A):c.10182+5T>C
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg)
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val)
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=)
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala)
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2167+4C>T rs200638562
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val)
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile)
NM_206933.4(USH2A):c.3933G>A rs560861284
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile)
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser)
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met)
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.4(USH2A):c.7203G>T rs769558676
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=)
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe)
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=)
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly)
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg)
NM_206933.4(USH2A):c.8559-7G>A rs199618999
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp)
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His)

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