ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_015560.2(OPA1):c.985-2A>G rs886041317
NM_181882.2(PRX):c.2787del (p.Lys930Serfs) rs754521978

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