List of variants reported as likely pathogenic for Rett syndrome, congenital variant by Genetic Services Laboratory, University of Chicago

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly)	rs587783638
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser)	rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)	rs727503935
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu)	rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr)	rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)	rs587783640
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser)	rs587783643

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.