ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2A2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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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Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_014874.4(MFN2):c.691T>C (p.Ser231Pro)
NM_014874.4(MFN2):c.730G>A (p.Val244Met)	rs879253777
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	rs587777875

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