ClinVar Miner

List of variants in gene ABCG5 studied for Sitosterolemia

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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00275
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00198
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) rs72542427 0.00132
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00103
NM_022436.3(ABCG5):c.501+11C>A rs530079060 0.00067
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) rs142125966 0.00047
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) rs143444046 0.00031
NM_022436.3(ABCG5):c.265+10G>A rs140341571 0.00029
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00026
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) rs368811625 0.00014
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) rs1212418813 0.00010
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) rs375829761 0.00009
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) rs371929020 0.00007
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) rs144622073 0.00006
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg) rs778605187 0.00006
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) rs569748582 0.00005
NM_022436.3(ABCG5):c.453C>A (p.Thr151=) rs753629544 0.00005
NM_022436.3(ABCG5):c.-76C>T rs560839317 0.00004
NM_022436.3(ABCG5):c.143+9G>C rs1377714293 0.00004
NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys) rs373819340 0.00004
NM_022436.3(ABCG5):c.403-8T>C rs776050632 0.00004
NM_022436.3(ABCG5):c.433C>T (p.Arg145Cys) rs866515397 0.00004
NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp) rs766545187 0.00003
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) rs149599171 0.00003
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_022436.3(ABCG5):c.402+19C>A rs2104864932 0.00002
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) rs141386201 0.00002
NM_022436.3(ABCG5):c.121C>G (p.Leu41Val) rs1030894919 0.00001
NM_022436.3(ABCG5):c.126T>C (p.His42=) rs1195869739 0.00001
NM_022436.3(ABCG5):c.138C>T (p.Ser46=) rs775574718 0.00001
NM_022436.3(ABCG5):c.144-17T>G rs774178310 0.00001
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu) rs1395568891 0.00001
NM_022436.3(ABCG5):c.1A>G (p.Met1Val) rs755998551 0.00001
NM_022436.3(ABCG5):c.207C>T (p.Leu69=) rs866321664 0.00001
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr) rs1441999437 0.00001
NM_022436.3(ABCG5):c.265+13A>G rs911042257 0.00001
NM_022436.3(ABCG5):c.265+7T>A rs1668376304 0.00001
NM_022436.3(ABCG5):c.266-13T>G rs1303311873 0.00001
NM_022436.3(ABCG5):c.273G>A (p.Gly91=) rs1401843886 0.00001
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) rs558993616 0.00001
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr) rs745785626 0.00001
NM_022436.3(ABCG5):c.33G>T (p.Gly11=) rs200471843 0.00001
NM_022436.3(ABCG5):c.342T>C (p.Tyr114=) rs1391862638 0.00001
NM_022436.3(ABCG5):c.343G>A (p.Val115Met) rs765063119 0.00001
NM_022436.3(ABCG5):c.365G>A (p.Arg122Gln) rs555463051 0.00001
NM_022436.3(ABCG5):c.366G>C (p.Arg122=) rs776344516 0.00001
NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter) rs770488364 0.00001
NM_022436.3(ABCG5):c.384C>T (p.Cys128=) rs1239298744 0.00001
NM_022436.3(ABCG5):c.411C>T (p.Thr137=) rs1454183075 0.00001
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter) rs781098379 0.00001
NC_000002.11:g.(?_44040255)_(44041748_?)del
NC_000002.11:g.(?_44047034)_(44047259_?)del
NC_000002.11:g.(?_44047116)_(44053814_?)del
NM_022436.3(ABCG5):c.-118A>C rs55853083
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_022436.3(ABCG5):c.143+13C>A
NM_022436.3(ABCG5):c.143+7C>T rs746799324
NM_022436.3(ABCG5):c.144-1G>A
NM_022436.3(ABCG5):c.145del (p.His49fs)
NM_022436.3(ABCG5):c.153G>A (p.Val51=) rs1572808737
NM_022436.3(ABCG5):c.177T>C (p.Ser59=) rs1390030417
NM_022436.3(ABCG5):c.187C>T (p.Gln63Ter)
NM_022436.3(ABCG5):c.195C>G (p.Thr65=) rs2466141086
NM_022436.3(ABCG5):c.225C>T (p.Tyr75=) rs745310708
NM_022436.3(ABCG5):c.237G>A (p.Gly79=) rs1286966736
NM_022436.3(ABCG5):c.265+16A>T rs2466139750
NM_022436.3(ABCG5):c.266-2A>G
NM_022436.3(ABCG5):c.266-5C>G rs1667986877
NM_022436.3(ABCG5):c.266-9G>T rs769024148
NM_022436.3(ABCG5):c.274A>G (p.Lys92Glu) rs2466095732
NM_022436.3(ABCG5):c.301G>T (p.Gly101Trp) rs1010631695
NM_022436.3(ABCG5):c.331G>T (p.Gly111Trp) rs1490854065
NM_022436.3(ABCG5):c.336G>A (p.Glu112=) rs371387251
NM_022436.3(ABCG5):c.357G>A (p.Ala119=) rs2466093981
NM_022436.3(ABCG5):c.402+13C>T
NM_022436.3(ABCG5):c.402+18A>T rs556260188
NM_022436.3(ABCG5):c.402+20C>A
NM_022436.3(ABCG5):c.402+3G>T rs2466093086
NM_022436.3(ABCG5):c.402+6CG[3]
NM_022436.3(ABCG5):c.403-13G>A rs2466091851
NM_022436.3(ABCG5):c.403-2A>T
NM_022436.3(ABCG5):c.405C>T (p.Ser135=)
NM_022436.3(ABCG5):c.421A>C (p.Ser141Arg) rs2466091244
NM_022436.3(ABCG5):c.429C>T (p.Thr143=) rs1667964581
NM_022436.3(ABCG5):c.436G>T (p.Glu146Ter)
NM_022436.3(ABCG5):c.43C>A (p.Leu15Ile) rs372312214
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val) rs372312214
NM_022436.3(ABCG5):c.43C>T (p.Leu15Phe) rs372312214
NM_022436.3(ABCG5):c.451A>C (p.Thr151Pro) rs1667962481
NM_022436.3(ABCG5):c.452C>G (p.Thr151Ser) rs1028572835
NM_022436.3(ABCG5):c.459G>A (p.Leu153=) rs2466090434
NM_022436.3(ABCG5):c.45C>G (p.Leu15=) rs932531973
NM_022436.3(ABCG5):c.501+11C>T rs530079060
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022436.3(ABCG5):c.501+14C>G rs747305034
NM_022436.3(ABCG5):c.501+16C>T
NM_022436.3(ABCG5):c.501+16del rs200655485
NM_022436.3(ABCG5):c.501+1G>A
NM_022436.3(ABCG5):c.75G>A (p.Leu25=) rs2466151492
NM_022436.3(ABCG5):c.82G>T (p.Ala28Ser) rs980495592
NM_022436.3(ABCG5):c.98C>T (p.Pro33Leu) rs778605187

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