ClinVar Miner

List of variants in gene APOB, APOB3'MAR studied for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.*11G>T rs72654428 0.00753
NM_000384.3(APOB):c.*229A>G rs72654430 0.00198
NM_000384.3(APOB):c.13680T>C (p.Thr4560=) rs72654427 0.00064
NM_000384.3(APOB):c.13651T>C (p.Tyr4551His) rs145832414 0.00029
NM_000384.3(APOB):c.13670G>C (p.Gly4557Ala) rs146687572 0.00008
NM_000384.3(APOB):c.13586A>G (p.His4529Arg) rs958014928 0.00003
NM_000384.3(APOB):c.13607C>T (p.Thr4536Met) rs748727595 0.00003
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.13608G>A (p.Thr4536=) rs377641527 0.00001
NM_000384.3(APOB):c.13654A>G (p.Met4552Val) rs758028252 0.00001
NC_000002.12:g.(?_21001710)_(21035728_?)del
NM_000384.3(APOB):c.13594C>T (p.Leu4532=)
NM_000384.3(APOB):c.13616T>C (p.Leu4539Pro)
NM_000384.3(APOB):c.13621A>C (p.Lys4541Gln) rs779964877
NM_000384.3(APOB):c.13627C>T (p.Gln4543Ter)
NM_000384.3(APOB):c.13638A>C (p.Thr4546=) rs777726812
NM_000384.3(APOB):c.13653C>A (p.Tyr4551Ter) rs2103345991
NM_000384.3(APOB):c.13665T>C (p.Ala4555=) rs2103345966
NM_000384.3(APOB):c.13672G>A (p.Glu4558Lys) rs1662980631
NM_000384.3(APOB):c.13679C>A (p.Thr4560Asn)
NM_000384.3(APOB):c.13683C>T (p.Ile4561=)

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