ClinVar Miner

List of variants reported as pathogenic for Pelizaeus-Merzbacher disease by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) rs1569427311
NM_000533.5(PLP1):c.1A>G (p.Met1Val) rs797045064

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