ClinVar Miner

List of variants in gene NEFL reported by Genesis Genome Database

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1414del (p.Ser472fs) rs780764641 0.01449
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) rs773570365 0.00001
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) rs746267609
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) rs201455550
NM_006158.5(NEFL):c.1413del (p.Ser472fs) rs11300136
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) rs1586128912
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.898G>A (p.Ala300Thr) rs774416609

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