List of variants in gene GRIN2D reported as pathogenic for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)	rs1569064110
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe)	rs2147452753
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)	rs1600982189
NM_000836.4(GRIN2D):c.2024C>T (p.Ala675Val)	rs1600982197
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile)	rs1569065861
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg)	rs1569065866

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.