List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 3

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603	0.00004
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)	rs104894826
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)	rs1597607651
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	rs879253954
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)	rs104894161
NM_000399.5(EGR2):c.1152C>A (p.His384Gln)	rs2132702519
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)	rs2132702182
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.558del (p.Arg186fs)	rs1553259568
NM_181882.3(PRX):c.1012del (p.Ala338fs)	rs1555801290
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs)	rs2079443119

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