ClinVar Miner

List of variants in gene NEFL reported as likely pathogenic by Molecular Genetics Laboratory, London Health Sciences Centre

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) rs774653437
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) rs1803034177
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) rs1803033886

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