List of variants in gene combination APOC2, APOC4-APOC2 reported as pathogenic for familial apolipoprotein C-II deficiency

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)	rs199563828	0.00001
NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer)	rs1406419764
NM_000483.5(APOC2):c.142T>C (p.Trp48Arg)	rs120074115
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter)	rs120074111
NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter)	rs120074111
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter)	rs754423238
NM_000483.5(APOC2):c.1A>G (p.Met1Val)	rs120074112
NM_000483.5(APOC2):c.216-1G>A
NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter)	rs120074116
NM_000483.5(APOC2):c.270del (p.Asp91fs)	rs2122211012
NM_000483.5(APOC2):c.274dup (p.Gln92fs)	rs756916028
NM_000483.5(APOC2):c.55+1G>C	rs111628497

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