ClinVar Miner

List of variants in gene NGLY1 reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326
NM_018297.4(NGLY1):c.1260+7T>G rs6550987
NM_018297.4(NGLY1):c.1261-11A>G rs192062614
NM_018297.4(NGLY1):c.132-14T>C rs77109827
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) rs564037973
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) rs544148699
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) rs74650888
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397
NM_018297.4(NGLY1):c.246+8T>A rs373747843
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) rs139636452
NM_018297.4(NGLY1):c.881+8C>T rs143998271

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.