ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.4420C>G (p.Leu1474Val)	rs2149114100
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)	rs896989123
NM_015046.7(SETX):c.1156A>G (p.Met386Val)	rs2131463372

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