ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1F

Included ClinVar conditions (2):
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_006158.4(NEFL):c.-176C>A rs2979688 0.54477
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.*1344G>A rs79034217 0.00685
NM_006158.5(NEFL):c.*101A>G rs34505194 0.00346
NM_006158.5(NEFL):c.*244A>G rs78869168 0.00290
NM_006158.5(NEFL):c.*82T>A rs148654058 0.00222
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00088
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00055
NM_006158.5(NEFL):c.*878A>G rs189452316 0.00053
NM_006158.5(NEFL):c.*1293A>G rs573350915 0.00043
NM_006158.5(NEFL):c.*436T>G rs542234603 0.00038
NM_006158.5(NEFL):c.*1806T>C rs192937928 0.00029
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00026
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00024
NM_006158.5(NEFL):c.*486T>G rs562682645 0.00023
NM_006158.5(NEFL):c.*1744T>C rs886062825 0.00022
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 0.00013
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00012
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00011
NM_006158.5(NEFL):c.*1101G>A rs527471303 0.00009
NM_006158.5(NEFL):c.*1464A>G rs773097050 0.00004
NM_006158.5(NEFL):c.*1482C>T rs886062827 0.00004
NM_006158.5(NEFL):c.*51A>G rs538082598 0.00004
NM_006158.4(NEFL):c.-248C>G rs927020136 0.00003
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.558G>A (p.Glu186=) rs554279852 0.00003
NM_006158.5(NEFL):c.564C>G (p.Ala188=) rs1457926450 0.00003
NM_006158.5(NEFL):c.*1383C>T rs1172304666 0.00002
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_006158.5(NEFL):c.*171C>G rs886062834 0.00001
NM_006158.5(NEFL):c.*856T>C rs886062831 0.00001
NM_006158.5(NEFL):c.-68T>A rs886062836 0.00001
NM_006158.5(NEFL):c.141G>A (p.Val47=) rs886062835 0.00001
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) rs773570365 0.00001
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) rs57848467 0.00001
NM_006158.5(NEFL):c.717G>A (p.Gln239=) rs1803041188 0.00001
NM_006158.4(NEFL):c.-183C>G rs62503766
NM_006158.4(NEFL):c.-258C>G rs769348830
NM_006158.5(NEFL):c.*1153T>G rs1802971132
NM_006158.5(NEFL):c.*1342A>G rs886062830
NM_006158.5(NEFL):c.*1349T>G rs886062828
NM_006158.5(NEFL):c.*577T>C rs886062832
NM_006158.5(NEFL):c.1027_1029del (p.Asp343del) rs1803033172
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) rs1429859627
NM_006158.5(NEFL):c.1357G>T (p.Glu453Ter)
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter) rs2117256073
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.311T>G (p.Phe104Cys) rs2486887830
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
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.516C>T (p.Arg172=) rs1803046250
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp) rs1797704362
NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter) rs1431523432
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter) rs199422214
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>A (p.Pro22His) rs267607538
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.5(NEFL):c.73C>A (p.His25Asn) rs924170559
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.923G>C (p.Ser308Thr)
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290

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