ClinVar Miner

List of variants in gene APOB reported as likely pathogenic for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.2604+1G>A rs775345377 0.00002
NM_000384.3(APOB):c.1618-2A>C rs373251374 0.00001
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970 0.00001
NM_000384.3(APOB):c.10181A>C (p.Lys3394Thr) rs1663150812
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.11789-1G>C rs1558560212
NM_000384.3(APOB):c.3508+1G>A rs867418897
NM_000384.3(APOB):c.3508+1G>T rs867418897
NM_000384.3(APOB):c.537+1G>T rs2103384749
NM_000384.3(APOB):c.693+2T>A rs2103383976
NM_000384.3(APOB):c.819-2A>G rs1572800245
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537

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