ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease, type 4H by Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center

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Total variants: 2
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NM_139241.3(FGD4):c.2211dup (p.Ala738fs) rs1565942358
NM_139241.3(FGD4):c.514del (p.Ala172fs) rs1565869918

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