ClinVar Miner

List of variants in gene ERCC8 reported as uncertain significance for Cockayne syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
NM_000082.4(ERCC8):c.1023A>G (p.Val341=) rs138173863 0.00032
NM_000082.4(ERCC8):c.173+9A>G rs143356896 0.00017
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588 0.00013
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn) rs201642761 0.00009
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg) rs146740678 0.00008
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile) rs192695896 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly) rs373174008 0.00005
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn) rs561366032 0.00004
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile) rs150952570 0.00003
NM_000082.4(ERCC8):c.472T>C (p.Leu158=) rs561001438 0.00003
NM_000082.4(ERCC8):c.*763A>C rs886060717 0.00002
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys) rs373783755 0.00002
NM_000082.4(ERCC8):c.*116T>C rs1747937844 0.00001
NM_000082.4(ERCC8):c.*602C>G rs1000325333 0.00001
NM_000082.4(ERCC8):c.*724C>G rs886060718 0.00001
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs) rs750622098 0.00001
NM_000082.4(ERCC8):c.1137del (p.Gln380fs) rs1343747301 0.00001
NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser) rs886060722 0.00001
NM_000082.4(ERCC8):c.399+3A>G rs768423381 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.551-10G>T rs758296965 0.00001
NM_000082.4(ERCC8):c.590G>A (p.Arg197His) rs763453717 0.00001
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn) rs933739444 0.00001
NM_000082.4(ERCC8):c.*113A>G rs567684336
NM_000082.4(ERCC8):c.*373_*375dup rs886060720
NM_000082.4(ERCC8):c.*377C>G rs1747930621
NM_000082.4(ERCC8):c.*462T>A rs886060719
NM_000082.4(ERCC8):c.*644G>A rs181536191
NM_000082.4(ERCC8):c.*725T>G rs549186090
NM_000082.4(ERCC8):c.*7T>A rs377745901
NM_000082.4(ERCC8):c.-25G>C rs745927528
NM_000082.4(ERCC8):c.-33C>T rs769026318
NM_000082.4(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.4(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His) rs368676801
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp) rs1749618539
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr) rs367874889
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp) rs1748970086
NM_000082.4(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.4(ERCC8):c.945C>T (p.Thr315=) rs1173045461

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.