List of variants reported as benign for Cerebrooculofacioskeletal syndrome 1 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP
NM_000124.4(ERCC6):c.*1275C>G	rs182177140
NM_000124.4(ERCC6):c.*1872C>T	rs115281814
NM_000124.4(ERCC6):c.*2137A>G	rs114723899
NM_000124.4(ERCC6):c.*2946C>T
NM_000124.4(ERCC6):c.*3395A>C
NM_000124.4(ERCC6):c.*3823T>C
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=)	rs4253045
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met)	rs2228525
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)	rs190863815
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)	rs2274097
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=)	rs4253207
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=)	rs35756610
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val)	rs4253219
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg)	rs4253227
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile)	rs4253230

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.