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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro)	rs11545137	0.05446
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala)	rs35626507	0.05444
NM_033087.4(ALG2):c.129C>G (p.Arg43=)	rs35055733	0.01831
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)	rs7023652	0.01515
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)	rs180849348	0.00918
NM_033087.4(ALG2):c.349-17A>G	rs193069827	0.00275
NM_033087.4(ALG2):c.84C>G (p.Gly28=)	rs61744789	0.00268
NM_033087.4(ALG2):c.288C>T (p.Phe96=)	rs542863968	0.00121
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)	rs201959100	0.00033
NM_033087.4(ALG2):c.390G>A (p.Arg130=)	rs375986920	0.00006
NM_033087.4(ALG2):c.484A>G (p.Ile162Val)	rs529195050	0.00002
NM_033087.4(ALG2):c.760T>C (p.Leu254=)	rs62562374

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.