List of variants reported as pathogenic for Pontocerebellar hypoplasia type 9 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001368809.2(AMPD2):c.1492del (p.Asp498fs)	rs587777391
NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter)	rs875989844
NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp)	rs587777392
NM_001368809.2(AMPD2):c.2215G>T (p.Asp739Tyr)	rs587777394
NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter)	rs587777393

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