ClinVar Miner

List of variants studied for familial apolipoprotein C-II deficiency by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
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.1A>G (p.Met1Val) rs120074112
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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