ClinVar Miner

List of variants in gene BIVM-ERCC5, ERCC5 studied for not specified

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
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.760A>G (p.Met254Val) rs1047769 0.02485
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
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 0.00325
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
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.3427G>A (p.Ala1143Thr) rs55798001 0.00089
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000123.4(ERCC5):c.1127C>T (p.Ala376Val) rs56398372 0.00082
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.3026G>A (p.Arg1009His) rs4150387 0.00047
NM_000123.4(ERCC5):c.1802A>G (p.Glu601Gly) rs60682853 0.00032
NM_000123.4(ERCC5):c.542A>G (p.His181Arg) rs4150295 0.00024
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser) rs141763734 0.00016
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val) rs200504271 0.00013
NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg) rs587778292 0.00011
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000123.4(ERCC5):c.2842T>C (p.Phe948Leu) rs200001652 0.00007
NM_000123.4(ERCC5):c.3449A>G (p.Asp1150Gly) rs149597229 0.00006
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
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.212G>A (p.Arg71His) rs587778293 0.00003
NM_000123.4(ERCC5):c.2542C>T (p.Arg848Trp) rs587778290 0.00003
NM_000123.4(ERCC5):c.314C>T (p.Thr105Met) rs544189029 0.00003
NM_000123.4(ERCC5):c.876A>G (p.Ile292Met) rs193097418 0.00003
NM_000123.4(ERCC5):c.-1C>T rs587777944 0.00001
NM_000123.4(ERCC5):c.1340C>T (p.Ala447Val) rs577826260 0.00001
NM_000123.4(ERCC5):c.1738C>T (p.Pro580Ser) rs587778296 0.00001
NM_000123.4(ERCC5):c.2556A>G (p.Ile852Met) rs780704053 0.00001
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021 0.00001
NM_000123.4(ERCC5):c.848C>T (p.Ser283Phe) rs587778295 0.00001
NC_000013.10:g.(103525694_103527656)_(103528352_?)del
NM_000123.4(ERCC5):c.-1C>G rs587777944
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.4(ERCC5):c.1556G>A (p.Gly519Glu) rs587778297
NM_000123.4(ERCC5):c.1615C>T (p.His539Tyr)
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.211C>T (p.Arg71Cys)
NM_000123.4(ERCC5):c.3021dup (p.Lys1008Ter)
NM_000123.4(ERCC5):c.3157= (p.Gly1053=)
NM_000123.4(ERCC5):c.3188_3192del (p.Thr1063fs) rs2140543372
NM_000123.4(ERCC5):c.3238= (p.Gly1080=)
NM_000123.4(ERCC5):c.3238G>C (p.Gly1080Arg) rs9514067
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.3256G>A (p.Gly1086Arg)
NM_000123.4(ERCC5):c.3556dup (p.Thr1186fs) rs769870504
NM_000123.4(ERCC5):c.362C>T (p.Thr121Ile) rs587778294
NM_000123.4(ERCC5):c.394C>T (p.Pro132Ser)
NM_000123.4(ERCC5):c.560A>C (p.Asp187Ala) rs2140523174
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.4(ERCC5):c.878A>T (p.Lys293Ile)
NM_000123.4(ERCC5):c.881-26T>G

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