ClinVar Miner

List of variants reported as uncertain significance for Xeroderma pigmentosum, group G

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Total variants: 81
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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.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.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.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.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.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

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