ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2T by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.1574A>C (p.Lys525Thr) rs1356844489 0.00001
NM_007289.4(MME):c.329T>G (p.Leu110Ter) rs2472967212

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