ClinVar Miner

List of variants in gene GFPT1 reported as likely benign for congenital myasthenic syndrome 12

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001244710.1(GFPT1):c.1882G>A (p.Val628Ile) rs190072721
NM_002056.4(GFPT1):c.816C>T (p.Arg272=) rs754486756
NM_002056.4(GFPT1):c.956-10A>G rs753072061
NM_002056.4(GFPT1):c.981G>A (p.Lys327=) rs373488949
NM_002056.4(GFPT1):c.987A>T (p.Ile329=) rs772941507

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.