ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center

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_139241.3(FGD4):c.2211dup (p.Ala738fs) rs1565942358
NM_139241.3(FGD4):c.514del (p.Ala172fs) rs1565869918

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