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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)	rs1803032912
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)	rs62636503
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)	rs191346286
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)	rs61491953
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	rs58982919

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