List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Dept. of Medical Genetics, Telemark Hospital Trust

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Total variants: 4

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HGVS	dbSNP
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)	rs587781246
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)	rs587781250
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)	rs119103268
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933

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