ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 1 by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys) rs1234808455 0.00001
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658 0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) rs752289948 0.00001
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu) rs1555837732
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) rs2068560302
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu) rs201018244
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys) rs1064795157

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