ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
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

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