List of variants in gene ERCC6 reported as pathogenic for COFS syndrome

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP
ERCC6, 2-BP DEL, 3794AA
ERCC6, 2254A-G
NM_000124.2(ERCC6):c.1834C>T (p.Arg612Ter)	rs376526037
NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904
NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901
NM_000124.3(ERCC6):c.2560C>T (p.Gln854Ter)	rs1554787509
NM_000124.3(ERCC6):c.2569C>T (p.Arg857Ter)	rs751448793
NM_000124.3(ERCC6):c.2830-2A>G	rs373227647
NM_000124.3(ERCC6):c.2960T>C (p.Leu987Pro)	rs121917905
NM_000124.3(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.