ClinVar Miner

List of variants in gene APOB studied for Familial hypercholesterolemia

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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_000384.3(APOB):c.6936C>T (p.Asp2312=) rs1041968 0.38695
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700 0.03627
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_000384.3(APOB):c.538-9C>T rs1800478 0.03349
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02896
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
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.2244+3G>A rs12714189 0.00920
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_000384.3(APOB):c.904+11C>G rs148944625 0.00522
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_000384.3(APOB):c.6261C>A (p.Thr2087=) rs61744855 0.00366
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_000384.3(APOB):c.2295G>A (p.Leu765=) rs72653063 0.00235
NM_000384.3(APOB):c.3150A>G (p.Thr1050=) rs72653072 0.00231
NM_000384.3(APOB):c.12803T>C (p.Met4268Thr) rs72654422 0.00222
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp) rs72653091 0.00222
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974 0.00213
NM_000384.3(APOB):c.8889C>T (p.Ile2963=) rs72653097 0.00213
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313 0.00198
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00177
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198 0.00162
NM_000384.3(APOB):c.11788+16C>T rs139704306 0.00136
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196 0.00073
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751 0.00034
NM_000384.3(APOB):c.2817-19T>G rs72653069 0.00025
NM_000384.3(APOB):c.12016G>A (p.Val4006Ile) rs183117027 0.00019
NM_000384.3(APOB):c.2823A>G (p.Thr941=) rs200868559 0.00008
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000384.3(APOB):c.8720G>A (p.Arg2907His) rs751437976 0.00004
NM_000384.3(APOB):c.6513A>G (p.Leu2171=) rs547853968 0.00003
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195 0.00002
NM_000384.3(APOB):c.11288T>C (p.Leu3763Pro) rs1663106152 0.00001
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10072A>C (p.Asn3358His) rs1663155110
NM_000384.3(APOB):c.10147G>A (p.Gly3383Ser) rs1663152041
NM_000384.3(APOB):c.10540G>A (p.Ala3514Thr) rs747633151
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10581G>C (p.Arg3527=)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13320del (p.Glu4441fs) rs750076573
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3842+23C>T
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5516T>C (p.Ile1839Thr)
NM_000384.3(APOB):c.5551_5558del (p.Tyr1851fs)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6047A>G (p.Asp2016Gly)
NM_000384.3(APOB):c.6592A>G (p.Ile2198Val)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6765G>A (p.Lys2255=) rs372343882
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val) rs571626569
NM_000384.3(APOB):c.7659G>A (p.Trp2553Ter)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.905-23C>T
NM_000384.3(APOB):c.9105T>A (p.Asn3035Lys) rs147510760
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)

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