List of variants reported as likely benign for Cohen-Gibson syndrome by Invitae

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

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003797.5(EED):c.148A>C (p.Thr50Pro)	rs149126431	0.00038
NM_003797.5(EED):c.820A>G (p.Ile274Val)	rs367891435	0.00016
NM_003797.5(EED):c.78C>T (p.Asp26=)	rs140683797	0.00008
NM_003797.5(EED):c.198A>G (p.Lys66=)	rs182106684	0.00007
NM_003797.5(EED):c.96C>T (p.Asp32=)	rs779705890	0.00005
NM_003797.5(EED):c.1257C>T (p.Ser419=)	rs751819549	0.00004
NM_003797.5(EED):c.361-19G>A	rs760341445	0.00004
NM_003797.5(EED):c.477C>T (p.Ser159=)	rs778911575	0.00002
NM_003797.5(EED):c.177G>A (p.Thr59=)	rs1202669117	0.00001
NM_003797.5(EED):c.441T>C (p.Phe147=)	rs777795883	0.00001
NM_003797.5(EED):c.1242A>G (p.Arg414=)
NM_003797.5(EED):c.216A>G (p.Lys72=)
NM_003797.5(EED):c.268-7_268-3del
NM_003797.5(EED):c.36A>G (p.Gly12=)
NM_003797.5(EED):c.6C>T (p.Ser2=)
NM_003797.5(EED):c.726+19G>A
NM_003797.5(EED):c.882C>A (p.Ile294=)
NM_003797.5(EED):c.930T>C (p.Asp310=)
NM_003797.5(EED):c.969T>A (p.Ser323=)

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.