ClinVar Miner

List of variants studied for ALG2-congenital disorder of glycosylation by Baylor Genetics

Included ClinVar conditions (4):

ALG2-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14
Congenital disorder of glycosylation type II
Congenital myasthenic syndrome 14

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	rs56393253	0.00054
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)	rs377047079	0.00003
NM_033087.4(ALG2):c.1064A>G (p.His355Arg)	rs1246812091

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.