List of variants in gene combination AMPD2, LOC126805822 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)	rs760433806	0.00004
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)	rs776868175	0.00001
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)	rs192669225

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