ClinVar Miner

List of variants in gene ERCC4 studied for Xeroderma pigmentosum, group F

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Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_005236.3(ERCC4):c.*484G>T rs3743538 0.36422
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.35986
NM_005236.3(ERCC4):c.*810G>A rs2276465 0.32063
NM_005236.3(ERCC4):c.*2513C>A rs11075223 0.29307
NM_005236.3(ERCC4):c.*3032G>T rs4781562 0.27153
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.*971C>G rs2276466 0.24575
NM_005236.3(ERCC4):c.*726G>C rs2276464 0.24180
NM_005236.3(ERCC4):c.*3195G>A rs4781563 0.23343
NM_005236.3(ERCC4):c.*2577C>A rs56012340 0.23225
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22844
NM_005236.3(ERCC4):c.*2174A>G rs9925509 0.07847
NM_005236.3(ERCC4):c.*3493T>C rs79560972 0.07396
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_005236.3(ERCC4):c.*3801C>T rs113403633 0.06008
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_005236.3(ERCC4):c.*1421G>T rs76447723 0.04343
NM_005236.3(ERCC4):c.*3913G>C rs112259692 0.04196
NM_005236.3(ERCC4):c.*11C>T rs9929524 0.02488
NM_005236.3(ERCC4):c.*674G>C rs1651204 0.02273
NM_005236.3(ERCC4):c.*675G>T rs1651203 0.02119
NM_005236.3(ERCC4):c.*3125A>G rs115183774 0.02088
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_005236.3(ERCC4):c.*1880C>T rs112776898 0.01335
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01182
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_005236.3(ERCC4):c.*3537C>T rs113073720 0.01006
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00910
NM_005236.3(ERCC4):c.*1056A>G rs72781468 0.00699
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00653
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00577
NM_005236.3(ERCC4):c.*2539A>G rs115526695 0.00547
NM_005236.3(ERCC4):c.*1472C>T rs112742002 0.00528
NM_005236.3(ERCC4):c.*2816A>T rs146325817 0.00527
NM_005236.3(ERCC4):c.*947T>C rs117293226 0.00520
NM_005236.3(ERCC4):c.*3200A>G rs8056393 0.00516
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00456
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00370
NM_005236.3(ERCC4):c.*3727G>T rs560338292 0.00312
NM_005236.3(ERCC4):c.*3439G>A rs192113185 0.00297
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.*3911C>T rs552082015 0.00285
NM_005236.3(ERCC4):c.*2139A>C rs140019040 0.00284
NM_005236.3(ERCC4):c.*1708G>A rs528435639 0.00281
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_005236.3(ERCC4):c.*701A>T rs146955145 0.00232
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00194
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.*2892C>G rs376334296 0.00176
NM_005236.3(ERCC4):c.*1251T>C rs532485638 0.00143
NM_005236.3(ERCC4):c.*3327A>G rs535056033 0.00111
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00106
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.*2588A>G rs188840787 0.00092
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_005236.3(ERCC4):c.*2744T>A rs12325236 0.00065
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_005236.3(ERCC4):c.*1858C>T rs775803860 0.00046
NM_005236.3(ERCC4):c.*1288G>A rs143188036 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.*2710C>T rs1009636631 0.00035
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.*1478T>C rs754423213 0.00031
NM_005236.3(ERCC4):c.*2759C>T rs776910274 0.00030
NM_005236.3(ERCC4):c.*1353G>A rs77401662 0.00026
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00025
NM_005236.3(ERCC4):c.*2255G>A rs886051675 0.00024
NM_005236.3(ERCC4):c.*384A>G rs886051668 0.00024
NM_005236.3(ERCC4):c.*3818G>A rs886051683 0.00023
NM_005236.3(ERCC4):c.*3130T>C rs189232031 0.00022
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00022
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala) rs371392134 0.00017
NM_005236.3(ERCC4):c.*1774C>T rs772694607 0.00015
NM_005236.3(ERCC4):c.*1981C>T rs1047686990 0.00015
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.*1256G>C rs373479879 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_005236.3(ERCC4):c.*2415A>G rs549968233 0.00011
NM_005236.3(ERCC4):c.*2463C>G rs895959283 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005236.3(ERCC4):c.*539G>A rs565318315 0.00010
NM_005236.3(ERCC4):c.*745A>G rs541739848 0.00010
NM_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644 0.00010
NM_005236.3(ERCC4):c.*1676G>A rs960247338 0.00009
NM_005236.3(ERCC4):c.*218A>G rs879319131 0.00009
NM_005236.3(ERCC4):c.*2712C>T rs552190642 0.00009
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.*411C>T rs141279442 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.*3319G>A rs567578149 0.00007
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005236.3(ERCC4):c.*248G>A rs541600279 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_005236.3(ERCC4):c.*106A>G rs983200560 0.00005
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00005
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00005
NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro) rs150244523 0.00005
NM_005236.3(ERCC4):c.*558A>C rs376791839 0.00004
NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg) rs377213481 0.00004
NM_005236.3(ERCC4):c.*1463C>T rs886051671 0.00003
NM_005236.3(ERCC4):c.*192T>C rs536552167 0.00003
NM_005236.3(ERCC4):c.*2423A>G rs886051676 0.00003
NM_005236.3(ERCC4):c.*2825A>T rs2032623031 0.00003
NM_005236.3(ERCC4):c.*3044A>C rs886051679 0.00003
NM_005236.3(ERCC4):c.*3282C>G rs2032631201 0.00003
NM_005236.3(ERCC4):c.*3921A>C rs773246781 0.00003
NM_005236.3(ERCC4):c.*3443G>A rs1023910862 0.00002
NM_005236.3(ERCC4):c.*3542T>C rs886051681 0.00002
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys) rs142332295 0.00002
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00002
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys) rs746296279 0.00002
NM_005236.3(ERCC4):c.*150T>C rs886051667 0.00001
NM_005236.3(ERCC4):c.*1635G>A rs1466776661 0.00001
NM_005236.3(ERCC4):c.*1897A>C rs886051672 0.00001
NM_005236.3(ERCC4):c.*2180G>A rs886051673 0.00001
NM_005236.3(ERCC4):c.*2240A>G rs886051674 0.00001
NM_005236.3(ERCC4):c.*2849G>A rs567543133 0.00001
NM_005236.3(ERCC4):c.*3071T>C rs886051680 0.00001
NM_005236.3(ERCC4):c.*3965G>A rs1177954651 0.00001
NM_005236.3(ERCC4):c.*630C>T rs1408482875 0.00001
NM_005236.3(ERCC4):c.*859A>C rs886051669 0.00001
NM_005236.3(ERCC4):c.*875A>G rs886051670 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) rs373587423 0.00001
NM_005236.3(ERCC4):c.1647A>C (p.Glu549Asp) rs886051665 0.00001
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys) rs777448181 0.00001
NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys) rs149364215 0.00001
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe) rs779099430 0.00001
NM_005236.3(ERCC4):c.367A>G (p.Ile123Val) rs144666685 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) rs397509403 0.00001
NM_005236.3(ERCC4):c.728A>G (p.His243Arg) rs144608823 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.*1796T>C rs565142105
NM_005236.3(ERCC4):c.*1915A>G rs910231660
NM_005236.3(ERCC4):c.*2072T>G rs2032608833
NM_005236.3(ERCC4):c.*2455G>T rs1406055423
NM_005236.3(ERCC4):c.*248G>T rs541600279
NM_005236.3(ERCC4):c.*2572C>G rs979385159
NM_005236.3(ERCC4):c.*2659T>C rs886051677
NM_005236.3(ERCC4):c.*2872A>C rs886051678
NM_005236.3(ERCC4):c.*2879A>C rs181178937
NM_005236.3(ERCC4):c.*3230C>G rs2032630522
NM_005236.3(ERCC4):c.*3753C>G rs886051682
NM_005236.3(ERCC4):c.*712A>G rs2032580067
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_005236.3(ERCC4):c.1112A>G (p.Lys371Arg) rs886051662
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn) rs2543179967
NM_005236.3(ERCC4):c.1417dup (p.Gln473fs)
NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr) rs886051663
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met) rs2543181408
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu) rs2543161539
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter) rs2141619663
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) rs869025184
NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp) rs886051666
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala) rs761699907
NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser) rs556330628
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp) rs2032078115
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.581del (p.Pro194fs) rs2543169545
NM_005236.3(ERCC4):c.891T>C (p.Tyr297=) rs886051660
NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys) rs886051661
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg) rs2543174417

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