ClinVar Miner

List of variants reported as uncertain significance for xeroderma pigmentosum group G

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.2818G>A (p.Val940Met) rs146344855 0.00113
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.2534-10T>G rs199562917 0.00077
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
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.2190T>C (p.Asp730=) rs148103512 0.00020
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.739A>G (p.Ile247Val) rs200504271 0.00013
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.2280C>T (p.Ile760=) rs773823921 0.00005
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln) rs867329357 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.2268G>C (p.Gln756His) rs777336956 0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 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.2320-15C>T rs886049940 0.00002
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) rs770975661 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.2208G>C (p.Leu736Phe) rs201744259 0.00001
NM_000123.4(ERCC5):c.2295C>T (p.Thr765=) rs201206202 0.00001
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr) rs751772171 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.-192A>C rs916384868
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) rs142927249
NM_000123.4(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) rs143667470
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.2182T>A (p.Trp728Arg)
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe) rs1882817610
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=) rs747408676
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) rs755253596
NM_000123.4(ERCC5):c.246A>C (p.Leu82=) rs757602836
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.2844T>C (p.Phe948=) rs563587995
NM_000123.4(ERCC5):c.2965-14T>A rs886049941
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
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.479A>T (p.Glu160Val) rs1882405209
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.