List of variants in gene AMPD2 reported as likely pathogenic for Pontocerebellar hypoplasia type 9

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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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.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser)
NM_001368809.2(AMPD2):c.1859G>T (p.Arg620Leu)	rs587777395
NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)	rs774256040

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