ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168

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