ClinVar Miner

List of variants reported as likely benign for childhood epilepsy with centrotemporal spikes by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.*8536_*8537insC rs59371229 0.01284
NM_001134407.3(GRIN2A):c.*2586C>T rs181616477 0.00102
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931 0.00026
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727 0.00014
NM_001134407.3(GRIN2A):c.1007+13T>G rs199862009 0.00009
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406 0.00007
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00006
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=) rs80138441 0.00006
NM_001134407.3(GRIN2A):c.3138A>G (p.Leu1046=) rs773244936 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001134407.3(GRIN2A):c.*7650_*7654del rs537062402

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