ClinVar Miner

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

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Total variants: 7
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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
NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198

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