ClinVar Miner

List of variants in gene BIVM-ERCC5, ERCC5 studied for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.3(ERCC5):c.-242T>C rs2296147 0.37387
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870 0.00325
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000123.3(ERCC5):c.-241G>C rs4150249 0.00120
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_000123.4(ERCC5):c.1287T>C (p.Asp429=) rs146853061 0.00109
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001 0.00089
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043 0.00064
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) rs34291397 0.00059
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys) rs2307491 0.00037
NM_000123.4(ERCC5):c.1641C>T (p.Asn547=) rs200615101 0.00029
NM_000123.4(ERCC5):c.542A>G (p.His181Arg) rs4150295 0.00024
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser) rs778333931 0.00020
NM_000123.4(ERCC5):c.-156C>A rs886049939 0.00017
NM_000123.4(ERCC5):c.1195G>A (p.Glu399Lys) rs4150315 0.00017
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val) rs200504271 0.00013
NM_000123.4(ERCC5):c.1563A>G (p.Glu521=) rs4150317 0.00011
NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg) rs587778292 0.00011
NM_000123.4(ERCC5):c.1917A>G (p.Glu639=) rs765554006 0.00009
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=) rs372662617 0.00008
NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=) rs761650522 0.00008
NM_000123.4(ERCC5):c.*88C>T rs1424795599 0.00006
NM_000123.4(ERCC5):c.-126A>G rs754840043 0.00006
NM_000123.4(ERCC5):c.3412G>A (p.Val1138Met) rs140930348 0.00006
NM_000123.4(ERCC5):c.89-10A>G rs202103819 0.00006
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln) rs867329357 0.00005
NM_000123.4(ERCC5):c.529-3C>T rs372122917 0.00005
NM_000123.4(ERCC5):c.-146A>G rs552781571 0.00004
NM_000123.4(ERCC5):c.1954+5G>A rs112412083 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val) rs368550097 0.00004
NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg) rs953446261 0.00003
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350 0.00003
NM_000123.4(ERCC5):c.212G>A (p.Arg71His) rs587778293 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000123.4(ERCC5):c.844G>A (p.Val282Ile) rs747651424 0.00003
NM_000123.4(ERCC5):c.876A>G (p.Ile292Met) rs193097418 0.00003
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp) rs137877463 0.00002
NM_000123.4(ERCC5):c.1955-6G>A rs371527587 0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) rs375404851 0.00002
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) rs780506840 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) rs770177920 0.00002
NM_000123.3(ERCC5):c.-380C>T rs1331645993 0.00001
NM_000123.4(ERCC5):c.1131T>A (p.Ala377=) rs764744058 0.00001
NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile) rs1294793811 0.00001
NM_000123.4(ERCC5):c.127C>T (p.Arg43Trp) rs750156480 0.00001
NM_000123.4(ERCC5):c.1926A>G (p.Glu642=) rs575691378 0.00001
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021 0.00001
NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=) rs886049942 0.00001
NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=) rs577633416 0.00001
NM_000123.4(ERCC5):c.3532C>T (p.Arg1178Cys) rs768302699 0.00001
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His) rs188710607 0.00001
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) rs121434573 0.00001
NM_000123.4(ERCC5):c.673-2A>G rs756420203 0.00001
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val) rs371937705 0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) rs121434572 0.00001
NM_000123.4(ERCC5):c.-192A>C rs916384868
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) rs142927249
NM_000123.4(ERCC5):c.1068del (p.Ser357fs) rs1325131028
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr) rs2140527689
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg) rs1882697320
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter) rs1882701423
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.4(ERCC5):c.246A>C (p.Leu82=) rs757602836
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.4(ERCC5):c.2604T>A (p.Thr868=) rs1847952748
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs) rs2140538834
NM_000123.4(ERCC5):c.2788C>G (p.Pro930Ala)
NM_000123.4(ERCC5):c.2844T>C (p.Phe948=) rs563587995
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs)
NM_000123.4(ERCC5):c.2965-14T>A rs886049941
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.323del (p.Lys108fs)
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala) rs1266019512
NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg) rs750395826
NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.380+3A>T
NM_000123.4(ERCC5):c.381-2A>G
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.479A>T (p.Glu160Val) rs1882405209
NM_000123.4(ERCC5):c.480del (p.Asp161fs)
NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys) rs762256976
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.4(ERCC5):c.664A>G (p.Met222Val) rs1391956862
NM_000123.4(ERCC5):c.669A>C (p.Pro223=) rs541094745
NM_000123.4(ERCC5):c.670G>C (p.Glu224Gln) rs552776094
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501

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