ClinVar Miner

List of variants in gene NEFL reported by GeneDx

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006158.3(NEFL):c.-374A>G rs2979687 0.59042
NM_006158.4(NEFL):c.-176C>A rs2979688 0.53692
NM_006158.5(NEFL):c.1044+39G>C rs6982740 0.07439
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) rs114329068 0.00395
NM_006158.5(NEFL):c.*101A>G rs34505194 0.00356
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_006158.5(NEFL):c.855C>T (p.Thr285=) rs1065083 0.00221
NM_006158.5(NEFL):c.1026C>G (p.Ala342=) rs35596950 0.00189
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.1044+20A>T rs373892107 0.00062
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) rs367943135 0.00011
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006158.5(NEFL):c.1590T>G (p.Val530=) rs267607679 0.00006
NM_006158.5(NEFL):c.1461G>A (p.Glu487=) rs763418924 0.00005
NM_006158.5(NEFL):c.-37A>C rs764769970 0.00004
NM_006158.5(NEFL):c.*2C>A rs754312148 0.00002
NM_006158.5(NEFL):c.1011G>A (p.Glu337=) rs761206907 0.00002
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) rs781084022 0.00001
NM_006158.5(NEFL):c.1395A>G (p.Glu465=) rs755320728 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.*235A>T rs1059111
NM_006158.5(NEFL):c.1044+46G>A rs143338656
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
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>A (p.Gln428=) rs931901985
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>A (p.Glu494=) rs1554497313
NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp) rs1554497313
NM_006158.5(NEFL):c.1490-193C>T rs79337695
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys) rs1802988556
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) rs58332872
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.5(NEFL):c.307A>T (p.Ser103Cys)
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter) rs545637885
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>G (p.Thr170Ser) rs541360328
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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