List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 9 by Genome-Nilou Lab

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Total variants: 3

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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.1345C>T (p.Arg449Ter)	rs760433806	0.00004
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001

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