ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_005216.5(DDOST):c.456+18C>T rs3738140 0.19425
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816 0.02282
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_005216.5(DDOST):c.66G>A (p.Ala22=) rs17837938 0.01665
NM_005216.5(DDOST):c.265+9T>A rs79243170 0.01029
NM_005216.5(DDOST):c.-12A>C rs61739382 0.00736
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_005216.5(DDOST):c.1176C>T (p.Ser392=) rs149576051 0.00320
NM_005216.5(DDOST):c.776C>T (p.Ala259Val) rs138061134 0.00201
NM_005216.5(DDOST):c.353-11G>C rs202107268 0.00182
NM_005216.5(DDOST):c.1209C>T (p.Arg403=) rs148883998 0.00148
NM_005216.5(DDOST):c.893G>A (p.Arg298Gln) rs117925699 0.00098
NM_005216.5(DDOST):c.36C>G (p.Leu12=) rs143329944 0.00081
NM_005216.5(DDOST):c.1293C>T (p.His431=) rs117634838 0.00031
NM_005216.5(DDOST):c.1170+16dup rs566726706 0.00021
NM_005216.5(DDOST):c.999C>T (p.Gly333=) rs190780604 0.00017
NM_005216.5(DDOST):c.154+19G>C rs200373074 0.00004
NC_000001.11:g.20661380G>C rs537816

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.