ClinVar Miner

List of variants studied for Glycogen storage disease type III by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
NM_000642.3(AGL):c.188G>A (p.Arg63His)
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly)
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
NM_000642.3(AGL):c.3836+1G>A rs780883601
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508

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.