ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher disease by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

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_001128834.2(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_001128834.2(PLP1):c.658T>G (p.Cys220Gly) rs1556270312

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