ClinVar Miner

List of variants reported as uncertain significance for familial apolipoprotein C-II deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000483.5(APOC2):c.*308dup rs199828513 0.00290
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) rs147242592 0.00076
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.*24C>T rs780350789
NM_000483.5(APOC2):c.*77C>A rs1474754355
NM_000483.5(APOC2):c.195C>A (p.Pro65=) rs145771233
NM_000483.5(APOC2):c.301G>A (p.Glu101Lys) rs886054485

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