ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 2A2A by OMIM

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Total variants: 15
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HGVS dbSNP
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294

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