ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337

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