ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4E by GeneReviews

Included ClinVar conditions (2):

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
Congenital hypomyelinating neuropathy 1, autosomal recessive

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Total variants: 3

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HGVS	dbSNP
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)	rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)	rs104894160
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)	rs104894158

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