ClinVar Miner

List of variants in gene NEFL reported as pathogenic by Invitae

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006158.4(NEFL):c.1414=
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.5(NEFL):c.1240dup (p.Gln414fs)
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) rs58332872
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter) rs766951637
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter) rs545637885
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter) rs1431523432
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter) rs2117254540
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.5(NEFL):c.799_803del (p.Lys267fs)
NM_006158.5(NEFL):c.832del (p.Glu278fs)
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) rs1586128143
NM_006158.5(NEFL):c.865_871del (p.Glu289fs)
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) rs59443585

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