ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 9 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg) rs1650946025 0.00001

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