List of variants in gene NGLY1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His)	rs139134926	0.00150
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=)	rs74650888	0.00138
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_018297.4(NGLY1):c.492+4A>T	rs181461044	0.00008
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln)	rs369598638	0.00006
NM_018297.4(NGLY1):c.1743A>G (p.Val581=)	rs766286658	0.00001
NM_018297.4(NGLY1):c.1780C>T (p.Leu594=)	rs2125442743
NM_018297.4(NGLY1):c.861G>A (p.Gln287=)

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.