ClinVar Miner

List of variants reported as pathogenic for Pontocerebellar hypoplasia type 9 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter) rs1011286644

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