ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Mendelics

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_015560.2(OPA1):c.1346del (p.Thr449fs) rs794729196

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