List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3

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HGVS	dbSNP
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663
NM_139241.3(FGD4):c.494dup (p.Leu167fs)

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