ClinVar Miner

List of variants in gene USH2A reported as likely benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP
NM_007123.5(USH2A):c.1299T>C (p.Pro433=) rs1571702060
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
NM_206933.3(USH2A):c.11389+15del rs397517972
NM_206933.3(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139
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.12895A>C (p.Arg4299=) rs1197075904
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.3(USH2A):c.553A>G (p.Met185Val) rs770266757
NM_206933.3(USH2A):c.6279T>C (p.Asp2093=) rs200876799
NM_206933.3(USH2A):c.7194C>T (p.Leu2398=) rs1269441158
NM_206933.3(USH2A):c.7626G>C (p.Leu2542=) rs577063450
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813
NM_206933.4(USH2A):c.10224A>G (p.Glu3408=) rs1553261931
NM_206933.4(USH2A):c.1027T>G (p.Ser343Ala) rs397517965
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=) rs563370514
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967
NM_206933.4(USH2A):c.10656T>C (p.Ser3552=) rs727503719
NM_206933.4(USH2A):c.10740+7G>C rs201206110
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=) rs200287425
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys) rs140548353
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn) rs111033515
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272
NM_206933.4(USH2A):c.1143+12C>T rs727505167
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12462T>C (p.Pro4154=) rs727503717
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=) rs369335995
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu) rs375223901
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile) rs111033500
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=) rs187707339
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro) rs143032902
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg) rs201864716
NM_206933.4(USH2A):c.13808A>G (p.His4603Arg) rs727504551
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=) rs778162193
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=) rs147037435
NM_206933.4(USH2A):c.14332G>T (p.Ala4778Ser) rs727504637
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686
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.14754G>A (p.Thr4918=) rs150286388
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=) rs397517993
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=) rs397517997
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=) rs147916810
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=) rs397518000
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452
NM_206933.4(USH2A):c.1550+10T>C rs200728788
NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile) rs397518001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467
NM_206933.4(USH2A):c.1942A>G (p.Thr648Ala) rs1239032275
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2007T>A (p.Ser669=) rs876657625
NM_206933.4(USH2A):c.2167+11C>T rs139647897
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn) rs397518006
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2829C>A (p.Gly943=) rs397518007
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.4(USH2A):c.3158-7A>G rs201558076
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=) rs946318077
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.3811+10C>A rs769756794
NM_206933.4(USH2A):c.3942A>G (p.Glu1314=) rs876657626
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=) rs727503733
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys) rs876657627
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=) rs727503729
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.486-15C>T rs114194722
NM_206933.4(USH2A):c.4886-12C>T rs199823130
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln) rs372436408
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=) rs747065891
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=) rs138064171
NM_206933.4(USH2A):c.5373G>C (p.Leu1791=) rs876657628
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085
NM_206933.4(USH2A):c.5496G>A (p.Val1832=) rs146585940
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=) rs41277216
NM_206933.4(USH2A):c.5776+7T>G rs397518020
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
NM_206933.4(USH2A):c.5858-12A>G rs727503727
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=) rs1052386893
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165
NM_206933.4(USH2A):c.627G>A (p.Lys209=) rs146402815
NM_206933.4(USH2A):c.6325+13G>A rs368490585
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=) rs768759268
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=) rs767205760
NM_206933.4(USH2A):c.687C>A (p.Gly229=) rs766740504
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=) rs147615382
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065
NM_206933.4(USH2A):c.6958-5C>T rs147914083
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.7451+3G>A rs397518030
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=) rs143683292
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile) rs778655083
NM_206933.4(USH2A):c.8244C>T (p.Leu2748=) rs111033506
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=) rs369778429
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.8559-7G>A rs199618999
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.870T>A (p.Ser290=) rs876657630
NM_206933.4(USH2A):c.8801G>C (p.Ser2934Thr)
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) rs111033534
NM_206933.4(USH2A):c.8845+9G>C rs748060796
NM_206933.4(USH2A):c.897A>G (p.Gln299=) rs201062965
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.4(USH2A):c.9258+15T>C rs181894778
NM_206933.4(USH2A):c.9278A>T (p.Tyr3093Phe) rs397518045
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=) rs876657631
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=) rs41305094
NM_206933.4(USH2A):c.9621T>C (p.Cys3207=) rs727505296
NM_206933.4(USH2A):c.9636C>T (p.Ile3212=) rs397518049
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326

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