ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5 reported by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.880+27T>C rs7982448 0.99954
NM_000123.4(ERCC5):c.672+229T>C rs7321648 0.99800
NM_000123.4(ERCC5):c.673-279G>A rs6491715 0.99800
NM_000123.4(ERCC5):c.2678+157G>A rs4772505 0.99798
NM_000123.4(ERCC5):c.381-129A>C rs1535729 0.99711
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.58386
NM_000123.4(ERCC5):c.672+128C>T rs3736865 0.58323
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 0.30357
NC_000013.11:g.102845499G>C rs1323697 0.24890
NM_000123.4(ERCC5):c.2879+206A>C rs732321 0.10568
NC_000013.11:g.102845567T>C rs4150247 0.09373
NM_000123.4(ERCC5):c.89-124A>G rs4150263 0.09216
NM_000123.4(ERCC5):c.2965-129A>C rs4150386 0.08125
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 0.04381
NM_000123.4(ERCC5):c.2679-199G>A rs4150358 0.04377
NM_000123.4(ERCC5):c.2533+56C>T rs4150336 0.03901
NM_000123.4(ERCC5):c.2679-116G>A rs4150359 0.03427
NM_000123.4(ERCC5):c.89-155G>T rs4150262 0.03386
NM_000123.4(ERCC5):c.2534-212T>C rs4150339 0.03223
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03197
NM_000123.4(ERCC5):c.2678+91G>A rs4150343 0.03177
NC_000013.11:g.102845830C>A rs4150248 0.03070
NM_000123.4(ERCC5):c.381-199G>A rs4150270 0.02534
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.760A>G (p.Met254Val) rs1047769 0.02515
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.89-137T>C rs41548912 0.02455
NM_000123.4(ERCC5):c.2534-271A>G rs4150338 0.02412
NM_000123.4(ERCC5):c.672+115A>C rs4150297 0.02056
NC_000013.11:g.102845549G>A rs115732965 0.01856
NM_000123.4(ERCC5):c.529-279C>T rs114701365 0.01734
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NC_000013.11:g.102845821G>C rs16960619 0.01613
NC_000013.11:g.102845827A>C rs74109690 0.01348
NM_000123.4(ERCC5):c.880+147A>G rs41558017 0.01045
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 0.00932
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_000123.4(ERCC5):c.2534-83C>T rs4150341 0.00661
NM_000123.4(ERCC5):c.2880-186T>C rs4150363 0.00614
NM_000123.4(ERCC5):c.1954+36T>C rs4150320 0.00570
NM_000123.4(ERCC5):c.2679-175G>A rs74769570 0.00521
NM_000123.4(ERCC5):c.2965-235G>A rs4150385 0.00464
NM_000123.4(ERCC5):c.528+44A>T rs556355360 0.00406
NM_000123.4(ERCC5):c.528+45A>C rs577933109 0.00379
NM_000123.4(ERCC5):c.2965-326T>G rs148798542 0.00375
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674 0.00373
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 0.00340
NM_000123.4(ERCC5):c.380+161G>A rs56010313 0.00326
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00108
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000123.4(ERCC5):c.1127C>T (p.Ala376Val) rs56398372 0.00075
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.542A>G (p.His181Arg) rs4150295 0.00024
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000123.4(ERCC5):c.1712C>T (p.Pro571Leu) rs759628522 0.00015
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021 0.00013
NM_000123.4(ERCC5):c.1911C>T (p.Ala637=) rs569227686 0.00008
NM_000123.4(ERCC5):c.1106C>T (p.Ala369Val) rs773179441 0.00007
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser) rs141763734 0.00007
NM_000123.4(ERCC5):c.160C>T (p.His54Tyr) rs1333614535 0.00004
NM_000123.4(ERCC5):c.2619C>T (p.Thr873=) rs373958404 0.00004
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter) rs966111552 0.00003
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350 0.00003
NM_000123.4(ERCC5):c.2898C>T (p.Phe966=) rs535585040 0.00003
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.128G>A (p.Arg43Gln) rs758174644 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000123.4(ERCC5):c.1306G>A (p.Asp436Asn) rs772289174 0.00001
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter) rs1882232971 0.00001
NC_000013.11:g.102845721C>T rs56111250
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1123C>T (p.Pro375Ser) rs1566468572
NM_000123.4(ERCC5):c.1328C>G (p.Thr443Ser) rs56109743
NM_000123.4(ERCC5):c.1343C>G (p.Ser448Ter)
NM_000123.4(ERCC5):c.1753G>T (p.Glu585Ter)
NM_000123.4(ERCC5):c.1900A>T (p.Ile634Phe) rs760908197
NM_000123.4(ERCC5):c.1954+108C>G rs4150321
NM_000123.4(ERCC5):c.1954+108C>T rs4150321
NM_000123.4(ERCC5):c.2533+275G>A rs3818356
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs) rs779078202
NM_000123.4(ERCC5):c.264+121_264+122del rs4150266
NM_000123.4(ERCC5):c.2880-239A>G rs76476666
NM_000123.4(ERCC5):c.3487G>A (p.Val1163Met)
NM_000123.4(ERCC5):c.380+144del rs5806326
NM_000123.4(ERCC5):c.468-307G>A rs4150281
NM_000123.4(ERCC5):c.528+186TA[8] rs5806327
NM_000123.4(ERCC5):c.528+186TA[9] rs5806327
NM_000123.4(ERCC5):c.623T>A (p.Met208Lys)
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.4(ERCC5):c.88+202G>A rs4150251
NM_000123.4(ERCC5):c.881-26T>G rs2501565026
NM_000123.4(ERCC5):c.89-274dup rs34587921

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