ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2J by OMIM

Included ClinVar conditions (6):

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	rs121913609	0.00001
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	rs121913597
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)	rs121913606
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595

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