List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2 by Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter)	rs142626276	0.00001
NM_000117.3(EMD):c.82+1G>A	rs1557182214
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)	rs749718096
NM_004984.4(KIF5A):c.2987A>G (p.Asp996Gly)	rs2140172189
NM_021815.5(SLC5A7):c.1113+2T>A	rs2104379614

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