ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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