ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 3 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) rs202114705 0.00006
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys) rs560427247
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)

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