List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2A2

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	rs138382758	0.00255
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	rs387906991	0.00003
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)	rs773371488	0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)	rs773159585	0.00001
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)	rs119103261
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	rs879254011
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)	rs879254011
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	rs863224967
NM_014874.4(MFN2):c.1392+2T>C	rs111723244
NM_014874.4(MFN2):c.205G>T (p.Val69Phe)	rs28940296
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)	rs1569889919
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	rs28940292
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys)	rs1064794571
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)	rs1557539119
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)	rs863224968
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)	rs28940293
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	rs119103268
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	rs863224069
NM_014874.4(MFN2):c.493C>G (p.His165Asp)	rs119103262
NM_014874.4(MFN2):c.494A>G (p.His165Arg)	rs863224970
NM_014874.4(MFN2):c.705G>T (p.Gln235His)
NM_014874.4(MFN2):c.730G>A (p.Val244Met)	rs879253777
NM_014874.4(MFN2):c.730G>T (p.Val244Leu)	rs879253777
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	rs794729198
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)	rs28940295
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	rs587777875
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294

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