ClinVar Miner

List of variants studied for familial hyperlipidemia by GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) rs1409123950 0.00001
NM_000041.3(APOE):c.[137T>C;388T>C]
NM_000041.4(APOE):c.422A>G (p.Gln141Arg) rs1969863273
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr) rs780340378

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