List of variants studied for Charcot-Marie-Tooth disease type 2A2 by OMIM

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Total variants: 14

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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.1085C>T (p.Thr362Met)	rs387906991	0.00003
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.1392+2T>C	rs111723244
NM_014874.4(MFN2):c.205G>T (p.Val69Phe)	rs28940296
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	rs28940292
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.493C>G (p.His165Asp)	rs119103262
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)	rs28940295
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294

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