ClinVar Miner

List of variants reported as uncertain significance for childhood epilepsy with centrotemporal spikes by Mendelics

Included ClinVar conditions (3):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val)	rs199528312	0.00001
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)	rs1006328489
NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs)	rs1379582796

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