List of variants in gene ERCC8 reported as benign for Cockayne syndrome type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.*105T>C	rs3117	0.36900
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=)	rs4647100	0.19656
NM_000082.4(ERCC8):c.*439G>T	rs4647155	0.09291
NM_000082.4(ERCC8):c.*519C>A	rs4647157	0.05096
NM_000082.4(ERCC8):c.173+1158A>G	rs4647068	0.02409
NM_000082.4(ERCC8):c.-23T>G	rs4647038	0.02401
NM_000082.4(ERCC8):c.*458T>C	rs4647156	0.01803
NM_000082.4(ERCC8):c.*36C>T	rs4647152	0.01630
NM_000082.4(ERCC8):c.363T>C (p.Asp121=)	rs4647088	0.01289
NM_000082.4(ERCC8):c.*237T>C	rs4647153	0.01170
NM_000082.4(ERCC8):c.504A>G (p.Val168=)	rs35366433	0.00639
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=)	rs4647130	0.00120
NM_000082.4(ERCC8):c.*583T>C	rs4647158

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.