ClinVar Miner

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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter)	rs1011286644
NM_001368809.2(AMPD2):c.2327del (p.Ile776fs)	rs1651209606

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