ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_000748.3(CHRNB2):c.1488C>T (p.His496=) rs200582284 0.00008
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) rs769249583 0.00001
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209 0.00001
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp) rs929185848

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