ClinVar Miner

List of variants reported for Pontocerebellar hypoplasia type 9 by Neuberg Centre For Genomic Medicine, NCGM

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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 0.00003
NM_001368809.2(AMPD2):c.2170GAG[1] (p.Glu725del) rs2524431561

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