ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) rs1135401728
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) rs1135401730
NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter) rs907852687
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg) rs1135401729
NM_018297.4(NGLY1):c.881+5G>T rs1135401731
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209

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.