ClinVar Miner

List of variants in gene NEFL reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
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.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) rs59443585

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