ClinVar Miner

List of variants in gene APOB reported by Laboratory of Genetics and Molecular Cardiology, University of São Paulo

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899 0.40054
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117 0.24155
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031 0.16481
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701 0.06584
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702 0.05420
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026 0.03579
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450 0.03392
NM_000384.3(APOB):c.5768A>G (p.His1923Arg) rs533617 0.02869
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202 0.02673
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761 0.02591
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695 0.02558
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192 0.02253
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699 0.01706
NM_000384.3(APOB):c.6937= (p.Ile2313=) rs584542 0.01532
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855 0.01525
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp) rs12713675 0.01524
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299 0.01522
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854 0.00761
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225 0.00723
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681 0.00709
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023 0.00669
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194 0.00578
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703 0.00562
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423 0.00557
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) rs61742331 0.00256
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288 0.00256
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile) rs72654409 0.00234
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077 0.00198
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr) rs12713540 0.00127
NM_000384.3(APOB):c.307T>C (p.Tyr103His) rs9282603 0.00108
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092 0.00061
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val) rs141225768 0.00059
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783 0.00058
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559 0.00050
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000384.3(APOB):c.4265G>A (p.Cys1422Tyr) rs568413 0.00018
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp) rs376768346 0.00015
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly) rs149660265 0.00007
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr) rs139434026 0.00003
NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe) rs971051696 0.00001
NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala) rs145807061 0.00001
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter) rs142017360 0.00001
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316 0.00001
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.1166A>G (p.Gln389Arg) rs1135402763
NM_000384.3(APOB):c.11789-2A>C rs1135402766
NM_000384.3(APOB):c.1310G>A (p.Arg437His) rs142114415
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.13555A>G (p.Arg4519Gly) rs546806987
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000384.3(APOB):c.3012del (p.Glu1004fs) rs1135402764
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.3(APOB):c.4590del (p.Asn1531fs) rs1135402765
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210

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