ClinVar Miner

List of variants in gene ABCG8 reported as likely benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.1488+121C>T rs76814535 0.01903
NM_022437.3(ABCG8):c.964+178G>A rs114197606 0.01500
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_022437.3(ABCG8):c.1489-246G>A rs74713051 0.01255
NM_022437.3(ABCG8):c.1412-174A>G rs6732359 0.01214
NM_022437.3(ABCG8):c.64-113A>G rs113648443 0.01208
NM_022437.3(ABCG8):c.323-324C>G rs144551004 0.00943
NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly) rs148370122 0.00892
NM_022437.3(ABCG8):c.1212-167C>G rs111949421 0.00890
NM_022437.3(ABCG8):c.165+41G>A rs55726838 0.00830
NM_022437.3(ABCG8):c.1211+42C>G rs115515507 0.00814
NM_022437.3(ABCG8):c.1128-32C>T rs111740641 0.00811
NM_022437.3(ABCG8):c.964+46C>T rs187434446 0.00680
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_022437.3(ABCG8):c.1488+45T>C rs59450458 0.00514
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_022437.3(ABCG8):c.165+72A>T rs562598492 0.00259
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) rs140778634 0.00158
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00093
NM_022437.3(ABCG8):c.576C>T (p.Ile192=) rs148058949 0.00060
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) rs144399404 0.00051
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00051
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser) rs150977210 0.00026
NM_022437.3(ABCG8):c.888G>T (p.Ala296=) rs143182625 0.00026
NM_022437.3(ABCG8):c.384G>A (p.Lys128=) rs764690028 0.00016
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) rs150970273 0.00015
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) rs376362072 0.00012
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) rs369736263 0.00011
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00011
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) rs369131115 0.00008
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) rs371163697 0.00008
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022437.3(ABCG8):c.694+5G>C rs557890655 0.00008
NM_022437.3(ABCG8):c.351G>A (p.Val117=) rs41281459 0.00007
NM_022437.3(ABCG8):c.450C>T (p.His150=) rs200013237 0.00007
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) rs373560827 0.00006
NM_022437.3(ABCG8):c.1869G>T (p.Ala623=) rs775757593 0.00006
NM_022437.3(ABCG8):c.64-14C>T rs373055005 0.00005
NM_022437.3(ABCG8):c.331A>C (p.Arg111=) rs752358589 0.00004
NM_022437.3(ABCG8):c.369C>T (p.His123=) rs139859350 0.00004
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) rs547583131 0.00004
NM_022437.3(ABCG8):c.1017G>A (p.Arg339=) rs375807484 0.00003
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) rs371968769 0.00003
NM_022437.3(ABCG8):c.1128-5C>T rs1277250843 0.00003
NM_022437.3(ABCG8):c.381C>T (p.Ile127=) rs759080514 0.00003
NM_022437.3(ABCG8):c.694+7G>T rs777435511 0.00003
NM_022437.3(ABCG8):c.1107C>T (p.Asp369=) rs774622976 0.00002
NM_022437.3(ABCG8):c.1452C>T (p.Asp484=) rs185116698 0.00002
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) rs368114257 0.00002
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) rs374820261 0.00002
NM_022437.3(ABCG8):c.165+10C>T rs574722652 0.00002
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) rs373862876 0.00002
NM_022437.3(ABCG8):c.695-7T>C rs374648568 0.00002
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) rs751866338 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022437.3(ABCG8):c.1211+7A>T rs568899040 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.1488+9G>A rs200207405 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.168G>A (p.Val56=) rs973149684 0.00001
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) rs776778929 0.00001
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) rs369023184 0.00001
NM_022437.3(ABCG8):c.285G>C (p.Val95=) rs771060960 0.00001
NM_022437.3(ABCG8):c.600C>T (p.Cys200=) rs770511598 0.00001
NM_022437.3(ABCG8):c.695-18C>T rs1390675561 0.00001
NM_022437.3(ABCG8):c.954T>A (p.Ala318=) rs1342511943 0.00001
NM_022437.3(ABCG8):c.1002G>A (p.Gln334=)
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1127+14C>T
NM_022437.3(ABCG8):c.1127+15G>A
NM_022437.3(ABCG8):c.1128-4C>T
NM_022437.3(ABCG8):c.1131C>T (p.Ser377=)
NM_022437.3(ABCG8):c.1140A>G (p.Pro380=)
NM_022437.3(ABCG8):c.1161G>A (p.Pro387=)
NM_022437.3(ABCG8):c.1170G>T (p.Thr390=) rs139902223
NM_022437.3(ABCG8):c.1185G>A (p.Ala395=)
NM_022437.3(ABCG8):c.1197T>C (p.Phe399=)
NM_022437.3(ABCG8):c.1203G>A (p.Thr401=) rs886056033
NM_022437.3(ABCG8):c.1211+10T>G
NM_022437.3(ABCG8):c.1211+12T>C
NM_022437.3(ABCG8):c.1211+13C>A
NM_022437.3(ABCG8):c.1211+14A>C
NM_022437.3(ABCG8):c.1211+9C>G
NM_022437.3(ABCG8):c.1212-13T>C
NM_022437.3(ABCG8):c.1212-14T>G
NM_022437.3(ABCG8):c.1212-15C>T
NM_022437.3(ABCG8):c.1212-8T>A
NM_022437.3(ABCG8):c.1212-9G>C
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) rs202176869
NM_022437.3(ABCG8):c.1320C>T (p.Ser440=)
NM_022437.3(ABCG8):c.1335C>T (p.Phe445=)
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
NM_022437.3(ABCG8):c.138C>A (p.Thr46=)
NM_022437.3(ABCG8):c.1412-9_1412-8insTT
NM_022437.3(ABCG8):c.1455G>T (p.Gly485=)
NM_022437.3(ABCG8):c.1467T>C (p.Thr489=)
NM_022437.3(ABCG8):c.1488+14G>T
NM_022437.3(ABCG8):c.1489-11G>C
NM_022437.3(ABCG8):c.1489-14G>T
NM_022437.3(ABCG8):c.1489-20G>T
NM_022437.3(ABCG8):c.1489-4G>A
NM_022437.3(ABCG8):c.1489-5T>C
NM_022437.3(ABCG8):c.1494C>G (p.Leu498=)
NM_022437.3(ABCG8):c.1536G>C (p.Gly512=)
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) rs558635043
NM_022437.3(ABCG8):c.1590G>A (p.Leu530=)
NM_022437.3(ABCG8):c.1599G>T (p.Leu533=) rs1019461053
NM_022437.3(ABCG8):c.1644C>T (p.Ala548=)
NM_022437.3(ABCG8):c.165+9A>G
NM_022437.3(ABCG8):c.1653C>A (p.Ala551=)
NM_022437.3(ABCG8):c.166-17C>A rs766274717
NM_022437.3(ABCG8):c.1662C>T (p.Pro554=)
NM_022437.3(ABCG8):c.1665C>G (p.Thr555=) rs781613870
NM_022437.3(ABCG8):c.1747C>T (p.Leu583=)
NM_022437.3(ABCG8):c.1749G>A (p.Leu583=)
NM_022437.3(ABCG8):c.1756+11C>T
NM_022437.3(ABCG8):c.1756+12C>T
NM_022437.3(ABCG8):c.1756+14C>T
NM_022437.3(ABCG8):c.1756+15C>A
NM_022437.3(ABCG8):c.1756+15C>T rs78577353
NM_022437.3(ABCG8):c.1757-14C>T
NM_022437.3(ABCG8):c.1757-15G>A
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1761C>T (p.Pro587=)
NM_022437.3(ABCG8):c.1815G>A (p.Lys605=)
NM_022437.3(ABCG8):c.1829GAA[1] (p.Arg611del) rs767706636
NM_022437.3(ABCG8):c.1866C>A (p.Ile622=) rs1333721350
NM_022437.3(ABCG8):c.1866C>T (p.Ile622=)
NM_022437.3(ABCG8):c.1869G>A (p.Ala623=)
NM_022437.3(ABCG8):c.1872C>G (p.Val624=)
NM_022437.3(ABCG8):c.1875A>G (p.Ser625=)
NM_022437.3(ABCG8):c.1884+10G>A
NM_022437.3(ABCG8):c.1884+9G>A rs759152941
NM_022437.3(ABCG8):c.1885-20C>G
NM_022437.3(ABCG8):c.1885-7T>C rs1485558944
NM_022437.3(ABCG8):c.1926C>T (p.Ala642=)
NM_022437.3(ABCG8):c.1941C>T (p.Val647=) rs147991100
NM_022437.3(ABCG8):c.271C>T (p.Leu91=)
NM_022437.3(ABCG8):c.291T>C (p.Ser97=)
NM_022437.3(ABCG8):c.322+18C>T
NM_022437.3(ABCG8):c.322+19G>A
NM_022437.3(ABCG8):c.322+20C>T
NM_022437.3(ABCG8):c.323-13G>C
NM_022437.3(ABCG8):c.323-4G>T
NM_022437.3(ABCG8):c.330G>A (p.Gly110=) rs764929713
NM_022437.3(ABCG8):c.345A>G (p.Leu115=)
NM_022437.3(ABCG8):c.372C>T (p.Gly124=)
NM_022437.3(ABCG8):c.390C>G (p.Gly130=)
NM_022437.3(ABCG8):c.420G>A (p.Ser140=)
NM_022437.3(ABCG8):c.474C>G (p.Leu158=) rs1317610779
NM_022437.3(ABCG8):c.474C>T (p.Leu158=)
NM_022437.3(ABCG8):c.561+13C>T
NM_022437.3(ABCG8):c.561+18G>A
NM_022437.3(ABCG8):c.562-14C>T
NM_022437.3(ABCG8):c.562-18G>A
NM_022437.3(ABCG8):c.562-18G>T
NM_022437.3(ABCG8):c.562-204C>T rs74732112
NM_022437.3(ABCG8):c.570C>T (p.Asp190=)
NM_022437.3(ABCG8):c.583C>T (p.Leu195=) rs1427466962
NM_022437.3(ABCG8):c.627C>T (p.Tyr209=)
NM_022437.3(ABCG8):c.64-19T>C
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) rs202198142
NM_022437.3(ABCG8):c.651G>A (p.Glu217=)
NM_022437.3(ABCG8):c.694+12G>T
NM_022437.3(ABCG8):c.694+17C>T
NM_022437.3(ABCG8):c.694+21_694+30dup
NM_022437.3(ABCG8):c.702T>C (p.Leu234=) rs1025227490
NM_022437.3(ABCG8):c.708C>G (p.Leu236=)
NM_022437.3(ABCG8):c.711C>T (p.Asp237=)
NM_022437.3(ABCG8):c.726G>C (p.Gly242=)
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) rs1558811634
NM_022437.3(ABCG8):c.786C>T (p.Asn262=)
NM_022437.3(ABCG8):c.804C>G (p.Ser268=)
NM_022437.3(ABCG8):c.807C>T (p.Leu269=)
NM_022437.3(ABCG8):c.81G>A (p.Leu27=)
NM_022437.3(ABCG8):c.880T>C (p.Leu294=)
NM_022437.3(ABCG8):c.888G>A (p.Ala296=) rs143182625
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)
NM_022437.3(ABCG8):c.921C>T (p.Ile307=)
NM_022437.3(ABCG8):c.964+14G>A
NM_022437.3(ABCG8):c.964+15C>T
NM_022437.3(ABCG8):c.964+16C>T
NM_022437.3(ABCG8):c.965-10C>G
NM_022437.3(ABCG8):c.965-11C>T rs748803910
NM_022437.3(ABCG8):c.965-19C>T
NM_022437.3(ABCG8):c.978C>T (p.Ser326=)
NM_022437.3(ABCG8):c.984C>T (p.Asp328=)
NM_022437.3(ABCG8):c.987G>A (p.Arg329=)

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