ClinVar Miner

List of variants studied for continuous spikes and waves during sleep by New York Genome Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.1008-22395A>T rs909654359 0.00006
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001134407.3(GRIN2A):c.1007+5923G>C rs2141611422
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu) rs2141136377
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=) rs2141129533
NM_001134407.3(GRIN2A):c.415-89902G>A rs2141916983
NM_001134407.3(GRIN2A):c.4319C>T (p.Ser1440Phe) rs752489703
NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala) rs59975221
Single allele

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.