List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)	rs202219398	0.00012
NC_000001.11:g.161305808_161309983dup
NM_000166.6(GJB1):c.-16-2A>G	rs751230398
NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys)	rs864309705
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	rs267606772
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	rs1563518388
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)	rs121908834
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)	rs763492075
NM_014874.4(MFN2):c.479T>G (p.Val160Gly)	rs879253861
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser)	rs879253862
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)	rs879253863
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)	rs864309709
Single allele

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