ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382
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.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294

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