ClinVar Miner

List of variants in gene AGRN reported as pathogenic for Congenital myasthenic syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
1p36.33 deletion (0.48 Mb)
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) rs587777299
NM_198576.4(AGRN):c.1362dup (p.Ser455fs) rs879253788
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) rs756623659
NM_198576.4(AGRN):c.314A>T (p.Asn105Ile) rs879253787
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) rs199476396
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg) rs763818876

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.