List of variants in gene combination AMPD2, LOC126805822 reported as uncertain significance 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)	rs570605098	0.00026
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)	rs374249741	0.00005
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)	rs149171366	0.00003
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr)	rs374652371	0.00003
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)	rs751131036	0.00001
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg)	rs1650946025	0.00001
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn)	rs374652371
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)

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