ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease, type 2A2A by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 3
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HGVS dbSNP
NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_001127660.1(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) rs879253862

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