ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1 by Baylor Genetics

Included ClinVar conditions (22):

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1D; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 1E; Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Neuropathy, congenital hypomyelinating, 2
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease
Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	rs121913590	0.00001
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14105874-15611546)

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