ClinVar Miner

List of variants in gene NEFL reported as uncertain significance by GeneDx

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) rs367943135 0.00011
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) rs781084022 0.00001
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) rs749130357 0.00001
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) rs755889503 0.00001
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) rs35575466 0.00001
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr) rs1415523458 0.00001
NM_006158.5(NEFL):c.1240C>A (p.Gln414Lys)
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) rs1803002899
NM_006158.5(NEFL):c.1284G>C (p.Gln428His) rs931901985
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.137C>G (p.Pro46Arg)
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) rs1554497315
NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp) rs1554497313
NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys) rs1802988556
NM_006158.5(NEFL):c.307A>T (p.Ser103Cys)
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.5(NEFL):c.487G>C (p.Glu163Gln) rs876661155
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile) rs541360328
NM_006158.5(NEFL):c.598G>T (p.Asp200Tyr) rs1312229375
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly) rs771763817
NM_006158.5(NEFL):c.634C>T (p.Arg212Cys)
NM_006158.5(NEFL):c.726G>C (p.Gln242His)
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290

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