ClinVar Miner

List of variants in gene APOB reported as pathogenic for Familial hypercholesterolemia

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Total variants: 30
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HGVS dbSNP
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
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.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.11789-2A>C rs1135402766
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.2297_2298del (p.Lys766fs) rs1553385715
NM_000384.3(APOB):c.2786dup (p.Arg931fs) rs1553385404
NM_000384.3(APOB):c.3012del (p.Glu1004fs) rs1135402764
NM_000384.3(APOB):c.4590del (p.Asn1531fs) rs1135402765
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter) rs142017360
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316

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