ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease, demyelinating, type 1f by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 22
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HGVS dbSNP
NC_000008.11:g.24956763G>C
NC_000008.11:g.24956773G>C
NM_006158.4(NEFL):c.*1342A>G rs886062830
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.*51A>G rs538082598
NM_006158.4(NEFL):c.*577T>C rs886062832
NM_006158.4(NEFL):c.*856T>C rs886062831
NM_006158.4(NEFL):c.-68T>A rs886062836
NM_006158.4(NEFL):c.141G>A (p.Val47=) rs886062835
NM_006158.4(NEFL):c.45G>A (p.Lys15=) rs62636518
NM_006158.5(NEFL):c.*1101G>A
NM_006158.5(NEFL):c.*1153T>G
NM_006158.5(NEFL):c.*1383C>T
NM_006158.5(NEFL):c.*1464A>G
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
NM_006158.5(NEFL):c.717G>A (p.Gln239=)

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