ClinVar Miner

List of variants reported as pathogenic for Pelizaeus-Merzbacher disease by TIDEX, University of British Columbia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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NM_001128834.2(PLP1):c.384_393del (p.Gln129fs) rs1556267215

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