ClinVar Miner

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

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Total variants: 8
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NM_000902.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316
NM_000902.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.4(MME):c.439+2T>A rs1057519024
NM_000902.4(MME):c.654+1G>A rs1057519023
NM_000902.4(MME):c.655-2A>G rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_007289.4(MME):c.531del (p.Lys177fs) rs1190163112

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