ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2T by Genomics England Pilot Project, Genomics England

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007289.4(MME):c.2050C>T (p.Gln684Ter) rs200678412
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057

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