ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2T by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1781-2A>G	rs765231758	0.00001
NM_007289.4(MME):c.716_717del (p.Lys239fs)	rs2108261555

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