ClinVar Miner

List of variants studied for familial apolipoprotein C-II deficiency

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000483.4(APOC2):c.-62T>G rs2288911 0.59500
NM_000483.5(APOC2):c.*188_*189insT rs150448996 0.28355
NM_000483.5(APOC2):c.*306C>T rs1130742 0.28341
NM_000483.5(APOC2):c.*90C>T rs7253690 0.01361
NM_000483.5(APOC2):c.56-4G>C rs74500990 0.01248
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_000483.5(APOC2):c.-2C>T rs5121 0.00686
NM_000483.5(APOC2):c.*308dup rs199828513 0.00290
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00229
NM_000483.5(APOC2):c.*116T>C rs537917972 0.00129
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) rs147242592 0.00076
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000483.5(APOC2):c.*236C>T rs142212854 0.00063
NM_000483.5(APOC2):c.56-11T>C rs778728968 0.00009
NM_000483.5(APOC2):c.102G>A (p.Pro34=) rs199658000 0.00004
NM_000483.5(APOC2):c.-38G>C rs1970314890 0.00002
NM_000483.4(APOC2):c.-45C>T rs886054484 0.00001
NM_000483.5(APOC2):c.*174T>C rs886054486 0.00001
NM_000483.5(APOC2):c.*203G>A rs886054487 0.00001
NM_000483.5(APOC2):c.-18G>A rs1433766273 0.00001
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) rs199563828 0.00001
NM_000483.5(APOC2):c.*24C>T rs780350789
NM_000483.5(APOC2):c.*77C>A rs1474754355
NM_000483.5(APOC2):c.-14+8A>G
NM_000483.5(APOC2):c.101C>T (p.Pro34Leu)
NM_000483.5(APOC2):c.10C>G (p.Arg4Gly)
NM_000483.5(APOC2):c.10C>T (p.Arg4Ter) rs202190413
NM_000483.5(APOC2):c.118G>T (p.Val40Leu)
NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer) rs1406419764
NM_000483.5(APOC2):c.131T>C (p.Leu44Pro)
NM_000483.5(APOC2):c.142T>C (p.Trp48Arg) rs120074115
NM_000483.5(APOC2):c.143G>T (p.Trp48Leu)
NM_000483.5(APOC2):c.161C>A (p.Ala54Asp)
NM_000483.5(APOC2):c.163G>A (p.Ala55Thr)
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.195C>A (p.Pro65=) rs145771233
NM_000483.5(APOC2):c.196G>C (p.Ala66Pro)
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.257C>G (p.Thr86Arg)
NM_000483.5(APOC2):c.270del (p.Asp91fs) rs2122211012
NM_000483.5(APOC2):c.274dup (p.Gln92fs) rs756916028
NM_000483.5(APOC2):c.301G>A (p.Glu101Lys) rs886054485
NM_000483.5(APOC2):c.55+17G>A
NM_000483.5(APOC2):c.55+1G>C rs111628497
NM_000483.5(APOC2):c.55G>T (p.Glu19Ter)
NM_000483.5(APOC2):c.56-6C>G
NM_000483.5(APOC2):c.58G>A (p.Val20Ile)
NM_000483.5(APOC2):c.68C>T (p.Thr23Ile)
NM_000483.5(APOC2):c.79C>T (p.Gln27Ter)

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