ClinVar Miner

List of variants in gene APOB reported as benign for Hypercholesterolemia, autosomal dominant, type B

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.3843-77T>C rs488329 0.99025
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899 0.40054
NM_000384.3(APOB):c.6936C>T (p.Asp2312=) rs1041968 0.38695
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38001
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117 0.24155
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031 0.16481
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701 0.06584
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702 0.05420
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026 0.03579
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700 0.03503
NM_000384.3(APOB):c.538-9C>T rs1800478 0.03185
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02731
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202 0.02673
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761 0.02591
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192 0.02253
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847 0.01812
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852 0.01624
NM_000384.3(APOB):c.3509-10G>A rs12720770 0.01624
NM_000384.3(APOB):c.1353-12C>T rs76202659 0.01320
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194 0.00578
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423 0.00557
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00400
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00249
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198 0.00229
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783 0.00058
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr) rs570782024 0.00005
NM_000384.3(APOB):c.5322C>T (p.Tyr1774=) rs13306188 0.00004
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.3(APOB):c.3201G>A (p.Pro1067=) rs200281277
NM_000384.3(APOB):c.9140C>G (p.Thr3047Arg) rs61742323

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