ClinVar Miner

List of variants in gene BIVM-ERCC5, ERCC5 studied for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP
NM_000123.3(ERCC5):c.*84G>A rs873601
NM_000123.3(ERCC5):c.*89G>A rs4150390
NM_000123.3(ERCC5):c.-126A>G rs754840043
NM_000123.3(ERCC5):c.-156C>A rs886049939
NM_000123.3(ERCC5):c.-200G>C rs76752300
NM_000123.3(ERCC5):c.-241G>C rs4150249
NM_000123.3(ERCC5):c.-242T>C rs2296147
NM_000123.3(ERCC5):c.-419A>G rs751402
NM_000123.3(ERCC5):c.-72C>T rs2296148
NM_000123.3(ERCC5):c.-74G>A rs3218736
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.3(ERCC5):c.1131T>A (p.Ala377=) rs764744058
NM_000123.3(ERCC5):c.1232C>T (p.Thr411Met) rs2227872
NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.3(ERCC5):c.127C>T (p.Arg43Trp) rs750156480
NM_000123.3(ERCC5):c.1287T>C (p.Asp429=) rs146853061
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350
NM_000123.3(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.1563A>G (p.Glu521=) rs4150317
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1641C>T (p.Asn547=) rs200615101
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870
NM_000123.3(ERCC5):c.1917A>G (p.Glu639=) rs765554006
NM_000123.3(ERCC5):c.1926A>G (p.Glu642=) rs575691378
NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) rs2228959
NM_000123.3(ERCC5):c.212G>A (p.Arg71His) rs587778293
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2190T>C (p.Asp730=) rs148103512
NM_000123.3(ERCC5):c.2208G>C (p.Leu736Phe) rs201744259
NM_000123.3(ERCC5):c.2268G>C (p.Gln756His) rs777336956
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2295C>T (p.Thr765=) rs201206202
NM_000123.3(ERCC5):c.2320-15C>T rs886049940
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2534-10T>G rs199562917
NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.3(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342
NM_000123.3(ERCC5):c.264+7G>A rs2020915
NM_000123.3(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.3(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.2844T>C (p.Phe948=) rs563587995
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.2965-14T>A rs886049941
NM_000123.3(ERCC5):c.2995T>G (p.Leu999Val) rs368550097
NM_000123.3(ERCC5):c.3003A>G (p.Gln1001=) rs886049942
NM_000123.3(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043
NM_000123.3(ERCC5):c.3157= (p.Arg1053=) rs9514066
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.3239G>A (p.Arg1080Gln) rs4150388
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871
NM_000123.3(ERCC5):c.3412G>A (p.Val1138Met) rs140930348
NM_000123.3(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.3(ERCC5):c.3486C>T (p.Leu1162=) rs761650522
NM_000123.3(ERCC5):c.3492C>A (p.Thr1164=) rs148782406
NM_000123.3(ERCC5):c.3532C>T (p.Arg1178Cys) rs768302699
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.433G>A (p.Val145Ile) rs4987063
NM_000123.3(ERCC5):c.442C>T (p.Pro148Ser) rs778333931
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
NM_000123.3(ERCC5):c.542A>G (p.His181Arg) rs4150295
NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) rs34291397
NM_000123.3(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.641G>A (p.Arg214His) rs146833751
NM_000123.3(ERCC5):c.669A>C (p.Pro223=) rs541094745
NM_000123.3(ERCC5):c.670G>C (p.Glu224Gln) rs552776094
NM_000123.3(ERCC5):c.739A>G (p.Ile247Val) rs200504271
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) rs121434572
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.3(ERCC5):c.876A>G (p.Ile292Met) rs193097418
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000123.4(ERCC5):c.*88C>T
NM_000123.4(ERCC5):c.-146A>G
NM_000123.4(ERCC5):c.-192A>C
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala)
NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg)
NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile)
NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp)
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318
NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg)
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.1954+5G>A
NM_000123.4(ERCC5):c.1955-6G>A
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe)
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=)
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) rs773823921
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973
NM_000123.4(ERCC5):c.246A>C (p.Leu82=)
NM_000123.4(ERCC5):c.2604T>A (p.Thr868=)
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln)
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) rs780506840
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=)
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)
NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=)
NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg)
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg)
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)
NM_000123.4(ERCC5):c.479A>T (p.Glu160Val)
NM_000123.4(ERCC5):c.664A>G (p.Met222Val)
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val)
NM_000123.4(ERCC5):c.838_839AG[3] (p.Val281fs) rs1595382501
NM_000123.4(ERCC5):c.89-10A>G
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)
NM_001204425.1(BIVM-ERCC5):c.1451-5769C>A rs267607281
NM_001204425.2(BIVM-ERCC5):c.1450+6084C>T

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