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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	rs149905705	0.00008
NM_007289.4(MME):c.202C>T (p.Arg68Ter)	rs201692212	0.00001
NM_007289.4(MME):c.536-1G>A	rs759072209	0.00001
NM_007289.4(MME):c.655-2A>G	rs765591205	0.00001
NC_000003.11:g.(?_154798107)_(154802884_154832782)del
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter)	rs797045039
NM_007289.4(MME):c.1066A>T (p.Lys356Ter)	rs2473073611
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)	rs2473074693
NM_007289.4(MME):c.1188+428A>G	rs61758195
NM_007289.4(MME):c.1400dup (p.Arg468fs)	rs751149568
NM_007289.4(MME):c.1564C>T (p.Gln522Ter)	rs1553765316
NM_007289.4(MME):c.1645G>T (p.Gly549Ter)	rs1722635259
NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	rs879253752
NM_007289.4(MME):c.439+2T>A	rs1057519024
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007289.4(MME):c.531del (p.Lys177fs)	rs1190163112
NM_007289.4(MME):c.654+1G>A	rs1057519023
NM_007289.4(MME):c.661C>T (p.Gln221Ter)	rs879253751

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