ClinVar Miner

List of variants reported as likely benign for Cerebrooculofacioskeletal syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000124.4(ERCC6):c.*118A>C rs4253233
NM_000124.4(ERCC6):c.*3921A>G
NM_000124.4(ERCC6):c.*4208A>G
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562

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.