ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919

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