ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NC_000008.11:g.24956698G>C
NC_000008.11:g.24956763G>C
NC_000008.11:g.24956773G>C
NM_006158.4(NEFL):c.*101A>G rs34505194
NM_006158.4(NEFL):c.*1342A>G rs886062830
NM_006158.4(NEFL):c.*1344G>A rs79034217
NM_006158.4(NEFL):c.*1349T>G rs886062828
NM_006158.4(NEFL):c.*1482C>T rs886062827
NM_006158.4(NEFL):c.*171C>G rs886062834
NM_006158.4(NEFL):c.*1744T>C rs886062825
NM_006158.4(NEFL):c.*1806T>C rs192937928
NM_006158.4(NEFL):c.*244A>G rs78869168
NM_006158.4(NEFL):c.*486T>G rs562682645
NM_006158.4(NEFL):c.*51A>G rs538082598
NM_006158.4(NEFL):c.*577T>C rs886062832
NM_006158.4(NEFL):c.*82T>A rs148654058
NM_006158.4(NEFL):c.*856T>C rs886062831
NM_006158.4(NEFL):c.*878A>G rs189452316
NM_006158.4(NEFL):c.-176C>A rs2979688
NM_006158.4(NEFL):c.-68T>A rs886062836
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.141G>A (p.Val47=) rs886062835
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.45G>A (p.Lys15=) rs62636518
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.5(NEFL):c.*1101G>A
NM_006158.5(NEFL):c.*1153T>G
NM_006158.5(NEFL):c.*1293A>G
NM_006158.5(NEFL):c.*1383C>T
NM_006158.5(NEFL):c.*1464A>G
NM_006158.5(NEFL):c.*436T>G
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
NM_006158.5(NEFL):c.717G>A (p.Gln239=)

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