ClinVar Miner

List of variants studied for childhood epilepsy with centrotemporal spikes by MGZ Medical Genetics Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.1309C>G (p.Arg437Gly)
NM_001134407.3(GRIN2A):c.1493G>A (p.Gly498Asp) rs749732928
NM_001134407.3(GRIN2A):c.2008-2A>C
NM_001134407.3(GRIN2A):c.3426del (p.Glu1143fs)

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