ClinVar Miner

List of variants in gene NEFL reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 16
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HGVS dbSNP
NC_000008.11:g.24953551del
NC_000008.11:g.24953557del
NC_000008.11:g.24953635T>G
NC_000008.11:g.24953729G>T
NC_000008.11:g.24954178C>T
NC_000008.11:g.24955479G>T
NC_000008.11:g.24956236G>A
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) rs57848467
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) rs587777880

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