ClinVar Miner

List of variants in gene APOB reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
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.11833A>G (p.Thr3945Ala) rs1801698 0.00212
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480 0.00210
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341 0.00019
NM_000384.3(APOB):c.2204T>A (p.Val735Glu) rs199872875 0.00011
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_000384.3(APOB):c.2841C>T (p.Thr947=) rs72653070 0.00008
NM_000384.3(APOB):c.12736T>G (p.Phe4246Val) rs200260789 0.00007
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253 0.00007
NM_000384.3(APOB):c.11319G>A (p.Lys3773=) rs780811733 0.00004
NM_000384.3(APOB):c.4311C>G (p.Phe1437Leu) rs1801697 0.00004
NM_000384.3(APOB):c.697C>T (p.Arg233Cys) rs1470195999 0.00004
NM_000384.3(APOB):c.8608A>G (p.Ser2870Gly) rs373961682 0.00004
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly) rs769694008 0.00002
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser) rs372282063 0.00002
NM_000384.3(APOB):c.6070A>G (p.Ile2024Val) rs564588440 0.00002
NM_000384.3(APOB):c.10314G>T (p.Met3438Ile) rs761164094 0.00001
NM_000384.3(APOB):c.10734C>T (p.Phe3578=) rs773361538 0.00001
NM_000384.3(APOB):c.11826C>T (p.Ala3942=) rs775360043 0.00001
NM_000384.3(APOB):c.5693C>G (p.Ser1898Cys) rs769220751 0.00001
NM_000384.3(APOB):c.9445G>A (p.Asp3149Asn) rs759354804 0.00001
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10129C>A (p.Leu3377Met) rs1572778990
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.13004C>T (p.Thr4335Ile) rs1663008802
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr) rs1663429897
NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu) rs966817615
NM_000384.3(APOB):c.4140A>G (p.Thr1380=) rs781016611
NM_000384.3(APOB):c.4796G>A (p.Arg1599His) rs746414462
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.6922G>A (p.Glu2308Lys) rs1304703582
NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs) rs1663251692
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys) rs372902533

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