ClinVar Miner

List of variants studied for MOGS-congenital disorder of glycosylation by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp) rs13405869 0.02517
NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser) rs35533773 0.01925
NM_006302.3(MOGS):c.2017G>A (p.Val673Ile) rs114933392 0.01265
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu) rs200508287 0.00140
NM_006302.3(MOGS):c.85C>G (p.Arg29Gly) rs369653963 0.00044
NM_006302.3(MOGS):c.2123G>A (p.Arg708His) rs181059661 0.00041
NM_006302.3(MOGS):c.499A>C (p.Arg167=) rs371747622 0.00033
NM_006302.3(MOGS):c.249C>G (p.Ala83=) rs764778419 0.00012

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.