ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease, type 2A2A

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Total variants: 16
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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.827A>G (p.Gln276Arg) rs119103264
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.701T>A (p.Met234Lys)
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294

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