ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by NeuroMeGen, Hospital Clinico Santiago de Compostela

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)	rs398124202
NM_005249.5(FOXG1):c.458G>T (p.Gly153Val)	rs1555321286
NM_005249.5(FOXG1):c.655C>G (p.Arg219Gly)	rs1555321323
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter)	rs1555321351

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.