ClinVar Miner

List of variants in gene CHRNA4 reported as pathogenic for Epilepsy, nocturnal frontal lobe, type 1

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Total variants: 6
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HGVS dbSNP
CHRNA4, 3-BP INS, 776GCT
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.867_869GCT[3] (p.Leu291dup) rs281865067
NM_000744.6(CHRNA4):c.878C>T (p.Thr293Ile) rs281865066

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