ClinVar Miner

List of variants reported as benign for ALG11-congenital disorder of glycosylation by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802 0.03255
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245 0.01560
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619 0.00365
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675 0.00348
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805 0.00031
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251

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.