ClinVar Miner

List of variants in gene ALG6 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_63862174)_(63862278_?)del
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
NM_013339.4(ALG6):c.167+5G>A rs1557585860
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.680+2T>G
NM_013339.4(ALG6):c.894_896AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443
NM_013339.4(ALG6):c.999dup (p.Leu334fs)

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.