ClinVar Miner

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

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Gene type:
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Total variants: 116
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HGVS dbSNP
NM_000384.2(APOB):c.10037G>T (p.Ser3346Ile) rs373190270
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10177T>C (p.Leu3393=) rs761667741
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.10371C>T (p.Ser3457=) rs139891446
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.2(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.2(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.2(APOB):c.11904-7C>T rs12720851
NM_000384.2(APOB):c.11934C>T (p.Ile3978=) rs539824713
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.2(APOB):c.12312G>A (p.Leu4104=) rs754600839
NM_000384.2(APOB):c.12318A>G (p.Arg4106=) rs375795401
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12794T>C (p.Val4265Ala) rs61743502
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.2(APOB):c.13020T>C (p.Tyr4340=) rs141339310
NM_000384.2(APOB):c.13095C>T (p.Asn4365=) rs13306203
NM_000384.2(APOB):c.13116A>G (p.Gln4372=) rs755500550
NM_000384.2(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.2(APOB):c.13452G>A (p.Thr4484=) rs200374122
NM_000384.2(APOB):c.1353-12C>T rs76202659
NM_000384.2(APOB):c.1402A>G (p.Asn468Asp) rs886804701
NM_000384.2(APOB):c.1493C>T (p.Thr498Ile) rs758928147
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1734C>T (p.Val578=) rs1553386125
NM_000384.2(APOB):c.1773C>T (p.Asn591=) rs1553386116
NM_000384.2(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.2(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.2(APOB):c.2068-4T>A rs41291161
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2244+3G>A rs12714189
NM_000384.2(APOB):c.2308G>A (p.Val770Ile) rs1415675587
NM_000384.2(APOB):c.244C>T (p.Leu82=) rs201658954
NM_000384.2(APOB):c.2585T>C (p.Val862Ala) rs145142090
NM_000384.2(APOB):c.2604+15G>C rs72653066
NM_000384.2(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.2(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.2(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.2(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.2(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.2(APOB):c.2950G>A (p.Ala984Thr) rs752149683
NM_000384.2(APOB):c.2968G>A (p.Ala990Thr) rs139434026
NM_000384.2(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.2(APOB):c.3034G>A (p.Glu1012Lys) rs575505383
NM_000384.2(APOB):c.3051C>T (p.Ser1017=) rs558838327
NM_000384.2(APOB):c.3052G>A (p.Ala1018Thr) rs149357946
NM_000384.2(APOB):c.3096C>G (p.Thr1032=) rs757565957
NM_000384.2(APOB):c.3122-6G>A rs72653071
NM_000384.2(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.2(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.2(APOB):c.3509-10G>A rs12720770
NM_000384.2(APOB):c.3509-11C>T rs200768300
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.2(APOB):c.4825T>C (p.Leu1609=) rs72653083
NM_000384.2(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.2(APOB):c.499C>T (p.Pro167Ser) rs139842930
NM_000384.2(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.2(APOB):c.538-9C>T rs1800478
NM_000384.2(APOB):c.5616C>T (p.Ile1872=) rs1487486971
NM_000384.2(APOB):c.5654A>G (p.Tyr1885Cys) rs762705866
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.2(APOB):c.6018C>T (p.Gly2006=) rs368422207
NM_000384.2(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.2(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.2(APOB):c.6261C>A (p.Thr2087=) rs61744855
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000384.2(APOB):c.6885A>G (p.Arg2295=) rs774992638
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.690C>A (p.Gly230=) rs151096846
NM_000384.2(APOB):c.6936C>T (p.Asp2312=) rs1041968
NM_000384.2(APOB):c.694-20G>A rs199702642
NM_000384.2(APOB):c.7134C>A (p.Ser2378Arg) rs793888518
NM_000384.2(APOB):c.7152T>C (p.Val2384=) rs72653090
NM_000384.2(APOB):c.7296C>T (p.Tyr2432=) rs1553383536
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.751G>A (p.Ala251Thr) rs61741625
NM_000384.2(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.2(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.2(APOB):c.8469T>C (p.Ala2823=) rs531216195
NM_000384.2(APOB):c.8877G>A (p.Leu2959=) rs765899256
NM_000384.2(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.2(APOB):c.900T>C (p.Gly300=) rs549628916
NM_000384.2(APOB):c.904+11C>G rs148944625
NM_000384.2(APOB):c.905-16A>C rs12720810
NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.2(APOB):c.9387T>G (p.Pro3129=) rs769437017
NM_000384.2(APOB):c.9471C>T (p.Gly3157=) rs746031928
NM_000384.2(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.2(APOB):c.9855C>T (p.Ile3285=) rs72654403
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855

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