ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) rs138886952 0.00024
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209 0.00001
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239

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