ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 9 by Center for Molecular Medicine, Children’s Hospital of Fudan University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu) rs746845817 0.00003
NM_001368809.2(AMPD2):c.895C>T (p.Gln299Ter) rs1329101309

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