ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 3 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375 0.00001
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)

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