ClinVar Miner

List of variants in gene NEFL studied for Inborn genetic diseases

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
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.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
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.579G>A (p.Met193Ile) rs367943135 0.00011
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile) rs750697495 0.00007
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) rs369991241 0.00004
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu) rs773979111 0.00003
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) rs1368855205 0.00003
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu) rs373569840 0.00003
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) rs1170226456 0.00002
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys) rs1231546543 0.00001
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) rs773570365 0.00001
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) rs749130357 0.00001
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp) rs769793484 0.00001
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) rs767370918 0.00001
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser) rs761264386 0.00001
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) rs764562926 0.00001
NM_006158.5(NEFL):c.1005G>C (p.Glu335Asp)
NM_006158.5(NEFL):c.1015A>C (p.Lys339Gln)
NM_006158.5(NEFL):c.1175T>G (p.Leu392Arg)
NM_006158.5(NEFL):c.1284G>A (p.Gln428=) rs931901985
NM_006158.5(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.5(NEFL):c.1309C>G (p.Arg437Gly)
NM_006158.5(NEFL):c.1317C>A (p.Phe439Leu)
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.5(NEFL):c.1366G>A (p.Glu456Lys)
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.1382C>T (p.Ala461Val)
NM_006158.5(NEFL):c.139G>T (p.Val47Leu)
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del) rs756788675
NM_006158.5(NEFL):c.1493C>T (p.Ala498Val)
NM_006158.5(NEFL):c.149C>T (p.Ser50Leu)
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del) rs570816238
NM_006158.5(NEFL):c.1571A>G (p.Glu524Gly)
NM_006158.5(NEFL):c.1576G>C (p.Glu526Gln)
NM_006158.5(NEFL):c.163C>T (p.Arg55Cys)
NM_006158.5(NEFL):c.197C>T (p.Pro66Leu) rs2117255738
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.299G>C (p.Arg100Pro)
NM_006158.5(NEFL):c.308G>T (p.Ser103Ile)
NM_006158.5(NEFL):c.330G>C (p.Glu110Asp)
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.370_372dup (p.Val124_Leu125insVal)
NM_006158.5(NEFL):c.377G>A (p.Arg126His) rs1364995930
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg) rs776351925
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser) rs1437779457
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.5(NEFL):c.596C>T (p.Ala199Val)
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly) rs772092001
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln) rs895511770
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.5(NEFL):c.734T>C (p.Val245Ala)
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.834A>T (p.Glu278Asp)
NM_006158.5(NEFL):c.85G>T (p.Val29Leu)
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly) rs777110668
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927
NM_006158.5(NEFL):c.872C>T (p.Ala291Val)
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)

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