ClinVar Miner

List of variants studied for autosomal dominant nocturnal frontal lobe epilepsy 4 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_000742.4(CHRNA2):c.1465-3C>T rs375469296 0.00003
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) rs761054762 0.00001
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met) rs766076722 0.00001
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)

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