ClinVar Miner

List of variants in gene ALG2 reported as pathogenic for congenital myasthenic syndrome with tubular aggregates

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033087.4(ALG2):c.203T>G (p.Val68Gly) rs730882051
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg) rs730882123
NM_033087.4(ALG2):c.215_225del (p.Gly72fs) rs1828806340

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.