ClinVar Miner

List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 9 by Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser)

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