List of variants reported as pathogenic for fragile X syndrome by OMIM

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002024.6(FMR1):c.373del (p.Thr125fs)	rs1569545562
NM_002024.6(FMR1):c.52-1_52delinsTA	rs1557176576
NM_002024.6(FMR1):c.80C>A (p.Ser27Ter)	rs1569545382
NM_002024.6(FMR1):c.911T>A (p.Ile304Asn)	rs121434622
NM_002024.6:c.-128GGM[55_?]

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.