List of variants in gene ERCC6 reported as pathogenic for Cerebrooculofacioskeletal syndrome 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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904	0.00004
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	rs376526037	0.00003
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	rs1439211546
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)	rs1590413260
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)	rs121917905
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)	rs758341467
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]

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.