ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2A2 by Solve-RD Consortium

Included ClinVar conditions (7):

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	rs138382758	0.00255
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	rs41278630	0.00221
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)	rs863224068
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294

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