ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 9 by Genomic Medicine Lab, University of California San Francisco

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.2110A>G (p.Met704Val) rs1477045999
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly) rs762954605

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