ClinVar Miner

List of variants studied for Cockayne syndrome type A by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_000082.3(ERCC8):c.*105T>C rs3117
NM_000082.3(ERCC8):c.*237T>C rs4647153
NM_000082.3(ERCC8):c.*36C>T rs4647152
NM_000082.3(ERCC8):c.*439G>T rs4647155
NM_000082.3(ERCC8):c.*462T>A rs886060719
NM_000082.3(ERCC8):c.*519C>A rs4647157
NM_000082.3(ERCC8):c.*724C>G rs886060718
NM_000082.3(ERCC8):c.*725T>G rs549186090
NM_000082.3(ERCC8):c.*763A>C rs886060717
NM_000082.3(ERCC8):c.-23T>G rs4647038
NM_000082.3(ERCC8):c.-25G>C rs745927528
NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482
NM_000082.3(ERCC8):c.1023A>G (p.Val341=) rs138173863
NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588
NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) rs4647130
NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) rs373174008
NM_000082.3(ERCC8):c.173+9A>G rs143356896
NM_000082.3(ERCC8):c.250T>C (p.Cys84Arg) rs146740678
NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) rs886060722
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) rs150952570
NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) rs192695896
NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) rs4647100
NM_000082.3(ERCC8):c.472T>C (p.Leu158=) rs561001438
NM_000082.3(ERCC8):c.504A>G (p.Val168=) rs35366433
NM_000082.3(ERCC8):c.551-10G>T rs758296965
NM_000082.3(ERCC8):c.655G>C (p.Ala219Pro) rs150727525
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.4(ERCC8):c.*113A>G
NM_000082.4(ERCC8):c.*116T>C
NM_000082.4(ERCC8):c.*377C>G
NM_000082.4(ERCC8):c.*458T>C
NM_000082.4(ERCC8):c.*583T>C
NM_000082.4(ERCC8):c.*602C>G
NM_000082.4(ERCC8):c.*644G>A
NM_000082.4(ERCC8):c.*7T>A
NM_000082.4(ERCC8):c.-33C>T
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)
NM_000082.4(ERCC8):c.399+3A>G
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys)
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp)
NM_000082.4(ERCC8):c.590G>A (p.Arg197His)
NM_000082.4(ERCC8):c.839C>A rs61754098
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn)
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn)
NM_000082.4(ERCC8):c.945C>T (p.Thr315=)

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.