List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	rs145226920	0.00016
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	rs201060167	0.00008
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	rs745790694	0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078	0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)	rs770501034	0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)	rs1248359114	0.00001
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_016156.6(MTMR2):c.1096del (p.Lys367fs)

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