ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) rs1057516138

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.