ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
NM_006158.5(NEFL):c.1169+14G>A
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
NM_006158.5(NEFL):c.678G>T (p.Val226=)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)

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