ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2I by Fulgent Genetics,Fulgent Genetics

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_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603

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