ClinVar Miner

List of variants in gene APOB reported as likely pathogenic for Familial hypercholesterolemia

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Total variants: 5
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NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr) rs759845943

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