ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome 12 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr)
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002056.4(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_002056.4(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_002056.4(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_002056.4(GFPT1):c.621del (p.Leu207_Leu208insTer)

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.