ClinVar Miner

List of variants in gene ERCC4 reported as uncertain significance for Xeroderma pigmentosum, group F

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.325G>A (p.Ala109Thr) rs148791570 0.00107
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.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.*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.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.*1256G>C rs373479879 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.*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.*3319G>A rs567578149 0.00007
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 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.*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.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.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.1112A>G (p.Lys371Arg) rs886051662
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn) rs2543179967
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.2178C>T (p.Arg726=) rs1255618541
NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp) rs886051666
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.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

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.