ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2I by OMIM

Included ClinVar conditions (3):

Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive

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Total variants: 4

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HGVS	dbSNP
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)	rs121913598
NM_000530.8(MPZ):c.178G>C (p.Asp60His)	rs121913604
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	rs121913605

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