ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2T by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.2067C>A (p.Asn689Lys) rs146536523 0.00009
NM_007289.4(MME):c.1580G>A (p.Arg527Gln) rs202008298 0.00003

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