ClinVar Miner

List of variants studied for Pelizeaus-Merzbacher spectrum disorder by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029

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