ClinVar Miner

List of variants reported as pathogenic for hereditary motor and sensory neuropathy type 6 by Baylor Genetics

Included ClinVar conditions (10):

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;; 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; Neuropathy, hereditary motor and sensory, type 6A
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, type 2A
Neuropathy, hereditary motor and sensory, type 6A
Neuropathy, hereditary motor and sensory, type 6B
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	rs119103265
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	rs119103268

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