ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2X by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (3):

Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X
Charcot-Marie-Tooth disease, axonal type 2X
Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X

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Total variants: 2

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HGVS	dbSNP
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	rs765061840
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	rs371334506

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