ClinVar Miner

List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 9 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter)	rs753591864	0.00008
NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)	rs774256040

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