ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 1F

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
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.*1101G>A rs527471303 0.00006
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_006158.5(NEFL):c.564C>G (p.Ala188=) rs1457926450 0.00003
NM_006158.5(NEFL):c.*1383C>T rs1172304666 0.00002
NM_006158.5(NEFL):c.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.141G>A (p.Val47=) rs886062835 0.00001
NM_006158.4(NEFL):c.-248C>G rs927020136
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.-68T>A rs886062836
NM_006158.5(NEFL):c.1027_1029del (p.Asp343del) rs1803033172
NM_006158.5(NEFL):c.311T>G (p.Phe104Cys)
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.717G>A (p.Gln239=) rs1803041188
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.986T>C (p.Leu329Pro) rs876661290

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