ClinVar Miner

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

Included ClinVar conditions (2):

Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease, demyelinating, type 1f; Charcot-Marie-Tooth disease type 2E; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

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Total variants: 2

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HGVS	dbSNP
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg)	rs377121179
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro)	rs876661290

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