ClinVar Miner

List of variants in gene NEFL reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) rs1170226456 0.00002
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) rs1328701916 0.00001
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) rs752771636 0.00001
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del) rs1554497354
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) rs1554497315
NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp) rs754666321
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.460A>C (p.Thr154Pro) rs1803048937
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) rs755170407
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) rs864622499

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