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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123
NM_000166.6(GJB1):c.529G>A (p.Val177Met)	rs1569215351
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr)	rs2047933165

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