ClinVar Miner

List of variants in gene NEFL reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.*1107C>T rs3761 0.10372
NM_006158.5(NEFL):c.*1643G>A rs8077 0.08320
NM_006158.5(NEFL):c.*378A>G rs17052849 0.04877
NM_006158.5(NEFL):c.*1100C>T rs79736124 0.03959
NM_006158.5(NEFL):c.*883G>C rs76387248 0.01696
NM_006158.5(NEFL):c.*1155T>G rs116881703 0.00773
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_006158.5(NEFL):c.*485A>G rs145103399 0.00252
NM_006158.5(NEFL):c.*436T>G rs542234603 0.00038
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00013
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_006158.5(NEFL):c.*1198G>C rs4644268
NM_006158.5(NEFL):c.*407_*408del rs144391096
NM_006158.5(NEFL):c.558G>A (p.Glu186=) rs554279852

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