ClinVar Miner

List of variants in gene ALG8 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00003
NM_024079.5(ALG8):c.802C>T (p.Arg268Ter) rs772492143 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs) rs2136876881
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1353dup (p.Glu452fs)
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.141_144del (p.His48fs)
NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024079.5(ALG8):c.413del (p.Thr138fs) rs387906277
NM_024079.5(ALG8):c.478C>T (p.His160Tyr)
NM_024079.5(ALG8):c.479A>T (p.His160Leu) rs2136915887
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.824del (p.Gly275fs)
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024079.5(ALG8):c.96-2A>G rs1555073109

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.