List of variants studied for developmental and epileptic encephalopathy, 46 by New York Genome Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg)	rs1365441040	0.00004
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr)	rs1971327716	0.00003
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile)	rs761726968	0.00001
NM_000836.4(GRIN2D):c.3127C>T (p.Pro1043Ser)	rs1326711404	0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser)	rs1340140743	0.00001
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu)	rs2147476513
NM_000836.4(GRIN2D):c.3797C>A (p.Ala1266Glu)	rs1971340970
NM_000836.4(GRIN2D):c.938G>A (p.Arg313Gln)	rs773027827

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.