ClinVar Miner

List of variants reported as uncertain significance for Familial hypercholesterolemia by Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1540G>A (p.Ala514Thr) rs1447116791 0.00001
NM_000041.4(APOE):c.873G>C (p.Gln291His)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser) rs879255136
NM_000527.5(LDLR):c.323C>A (p.Thr108Lys) rs750126678

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