ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2A2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.334G>A (p.Val112Met)	rs757937208	0.00002
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	rs879254011

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