ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
Single allele

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