ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 1 by Athena Diagnostics Inc

Included ClinVar conditions (15):

Charcot-Marie-Tooth disease type 1B
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 1E
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 2J; 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 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy
Charcot-Marie-Tooth disease, type IA
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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	rs121913590	0.00001
NM_000304.4(PMP22):c.281dup (p.Arg95fs)	rs80338763
NM_000304.4(PMP22):c.434del (p.Leu145fs)	rs863225029
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)	rs121913584
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)	rs863225025
NM_000530.8(MPZ):c.646-10_650del	rs863225026

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