ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_003863.3(DPM2):c.154G>A (p.Ala52Thr) rs147263320
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901

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.