ClinVar Miner

List of variants in gene APOB reported as pathogenic

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Total variants: 69
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HGVS dbSNP
APOB, 1-BP DEL, 4432T
APOB, 4-BP DEL, NT36491
APOB, EX21DEL
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.10580G>T (p.Arg3527Leu) rs5742904
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp) rs1418775778
NM_000384.3(APOB):c.10739A>G (p.Asn3580Ser) rs762028704
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys) rs150312765
NM_000384.3(APOB):c.10768G>A (p.Glu3590Lys) rs747606537
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.3(APOB):c.10808A>G (p.His3603Arg) rs370481987
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
NM_000384.3(APOB):c.11789-2A>C rs1135402766
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.13026_13027AT[1] (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.13114C>T (p.Gln4372Ter) rs1442815965
NM_000384.3(APOB):c.13126C>T (p.Gln4376Ter) rs1553382326
NM_000384.3(APOB):c.13129_13130del (p.Ile4377fs) rs1553382325
NM_000384.3(APOB):c.13135C>T (p.Gln4379Ter) rs1553382319
NM_000384.3(APOB):c.13151T>C (p.Leu4384Pro) rs1339117465
NM_000384.3(APOB):c.13158del (p.Glu4387fs) rs886039829
NM_000384.3(APOB):c.13168G>C (p.Asp4390His) rs771015234
NM_000384.3(APOB):c.13196A>C (p.Lys4399Thr) rs1553382300
NM_000384.3(APOB):c.13220T>C (p.Ile4407Thr) rs1553382295
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970
NM_000384.3(APOB):c.1830-1G>A rs1399892057
NM_000384.3(APOB):c.2297_2298del (p.Lys766fs) rs1553385715
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
NM_000384.3(APOB):c.2786dup (p.Arg931fs) rs1553385404
NM_000384.3(APOB):c.2988_2994del (p.Gly997fs) rs1057518647
NM_000384.3(APOB):c.3012del (p.Glu1004fs) rs1135402764
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter) rs121918391
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)
NM_000384.3(APOB):c.4590del (p.Asn1531fs) rs1135402765
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter) rs142017360
NM_000384.3(APOB):c.5116dup (p.Thr1706fs) rs1553383931
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) rs1553383898
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386
NM_000384.3(APOB):c.6543del (p.Phe2181fs) rs1558564161
NM_000384.3(APOB):c.671del (p.Pro224fs)
NM_000384.3(APOB):c.6835C>T (p.Gln2279Ter) rs121918388
NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390
NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter) rs1553383473
NM_000384.3(APOB):c.819-2A>G
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9110_9114TTTTC[1] (p.Phe3039fs) rs1215189537
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000384.3(APOB):c.9523del (p.Ala3175fs) rs878853973

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