ClinVar Miner

List of variants studied for childhood epilepsy with centrotemporal spikes by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.3174C>A (p.His1058Gln) rs1064796658
NM_001134407.3(GRIN2A):c.3385C>T (p.His1129Tyr)
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
NM_001134407.3(GRIN2A):c.92C>G (p.Pro31Arg)
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp) rs2044756352

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