ClinVar Miner

List of variants in gene NEFL reported as likely pathogenic

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1044+2T>G
NM_006158.5(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) rs1429859627
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.292A>C (p.Asn98His)
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.5(NEFL):c.400C>T (p.Arg134Cys)
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) rs774653437
NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter) rs1431523432
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu) rs267607538
NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.803T>G (p.Leu268Arg) rs62636502
NM_006158.5(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) rs1586128143
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) rs1803034177
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) rs1803033886

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