ClinVar Miner

List of variants in gene NEFL reported as not provided by Epithelial Biology; Institute of Medical Biology, Singapore

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_006158.5(NEFL):c.1560C>A (p.Thr520=) rs267607677 0.00010
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006158.5(NEFL):c.1458C>T (p.Ala486=) rs61726486 0.00007
NM_006158.5(NEFL):c.1590T>G (p.Val530=) rs267607679 0.00006
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_006158.5(NEFL):c.123C>T (p.Ser41=) rs57762083 0.00001
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) rs151208148 0.00001
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) rs57848467 0.00001
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) rs58975336 0.00001
NM_006158.5(NEFL):c.-44_-42delinsATG rs267607675
NM_006158.5(NEFL):c.-54TC[3] rs267607678
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys) rs57105105
NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter) rs140532785
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1576dup (p.Glu526fs) rs267607536
NM_006158.5(NEFL):c.189G>A (p.Ser63=) rs59408749
NM_006158.5(NEFL):c.227T>A (p.Val76Glu) rs58907919
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) rs58332872
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del) rs267607537
NM_006158.5(NEFL):c.969G>T (p.Arg323=) rs62636521
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717

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