ClinVar Miner

List of variants studied for ALG11-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_001004127.2(ALG11):c.-674A>G rs28362532
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415
NM_001004127.3(ALG11):c.44+324T>C rs77505745
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802

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.