ClinVar Miner

List of variants in gene NGLY1 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.1003+15A>C rs145665993 0.00152
NM_018297.4(NGLY1):c.881+8C>T rs143998271 0.00072
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) rs776423647 0.00004
NM_018297.4(NGLY1):c.131+11A>G rs377289212 0.00003
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010 0.00002
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087 0.00001
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) rs551759932
NM_018297.4(NGLY1):c.882-14dup rs762807225

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.