ClinVar Miner

List of variants in gene NEFL reported as uncertain significance by Molecular Genetics Laboratory, London Health Sciences Centre

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 0.00013
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00013
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs372245403 0.00010
NM_006158.5(NEFL):c.*2C>A rs754312148 0.00002
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) rs764562926 0.00001
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del) rs1803033503
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) rs1586126731
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) rs1803003337
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser) rs541360328

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