ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome by Counsyl

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000082.3(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838

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.