ClinVar Miner

List of variants in gene ABCG8 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1411+90del rs10709506 0.88215
NM_022437.3(ABCG8):c.322+431T>C rs6544713 0.75351
NM_022437.3(ABCG8):c.1412-152A>G rs4953027 0.74128
NM_022437.3(ABCG8):c.1412-8C>T rs28517482 0.65816
NM_022437.3(ABCG8):c.561+43T>C rs4148214 0.60441
NM_022437.3(ABCG8):c.1488+205G>A rs4953028 0.53934
NM_022437.3(ABCG8):c.965-260T>C rs3795860 0.43216
NM_022437.3(ABCG8):c.64-7C>T rs4148210 0.41875
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.64-21C>A rs4148209 0.34551
NM_022437.3(ABCG8):c.1211+137G>A rs4148218 0.22450
NM_022437.3(ABCG8):c.1489-50T>C rs4148220 0.20038
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=) rs4148221 0.16563
NM_022437.3(ABCG8):c.964+317A>G rs6709904 0.15809
NM_022437.3(ABCG8):c.1212-77T>C rs4245794 0.12594
NM_022437.3(ABCG8):c.562-183C>A rs72875462 0.09512
NM_022437.3(ABCG8):c.1212-55G>A rs4245795 0.09482
NM_022437.3(ABCG8):c.1411+104A>G rs34198326 0.09420
NM_022437.3(ABCG8):c.322+206T>C rs41360247 0.07964
NM_022437.3(ABCG8):c.453G>A (p.Val151=) rs56132765 0.06877
NM_022437.3(ABCG8):c.1488+262T>C rs17031742 0.05805
NM_022437.3(ABCG8):c.1489-88T>C rs55924588 0.05476
NM_022437.3(ABCG8):c.64-294T>A rs17031713 0.05455
NM_022437.3(ABCG8):c.965-58A>G rs55741639 0.05402
NM_022437.3(ABCG8):c.562-92G>A rs56260466 0.05318
NM_022437.3(ABCG8):c.1211+189G>A rs41281461 0.05301
NM_022437.3(ABCG8):c.964+303C>T rs72796748 0.04985
NM_022437.3(ABCG8):c.694+46C>T rs9282572 0.04916
NM_022437.3(ABCG8):c.1489-321G>A rs4148219 0.04755
NM_022437.3(ABCG8):c.675G>A (p.Val225=) rs9282575 0.04664
NM_022437.3(ABCG8):c.166-209T>C rs17039142 0.02517
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_022437.3(ABCG8):c.166-141G>A rs75396867 0.02504
NM_022437.3(ABCG8):c.1488+121C>T rs76814535 0.01903
NM_022437.3(ABCG8):c.1756+22T>C rs116374521 0.01860
NM_022437.3(ABCG8):c.964+178G>A rs114197606 0.01500
NM_022437.3(ABCG8):c.165+13C>T rs75365565 0.01403
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.1488+46G>A rs117574001 0.01174
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.154C>G (p.Leu52Val) rs142250628 0.00624
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.1716C>T (p.Leu572=) rs116046586 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
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.1170G>A (p.Thr390=) rs139902223 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.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00100
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.1656G>A (p.Leu552=) rs145341486 0.00092
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00078
NM_022437.3(ABCG8):c.561+14C>T rs201961945 0.00070
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.1225A>G (p.Asn409Asp) rs140373311 0.00044
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
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.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00022
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser) rs201690654 0.00019
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser) rs371166792 0.00019
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu) rs762225826 0.00016
NM_022437.3(ABCG8):c.384G>A (p.Lys128=) rs764690028 0.00016
NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile) rs371711306 0.00015
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) rs150970273 0.00015
NM_022437.3(ABCG8):c.1115C>A (p.Thr372Asn) rs756606650 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn) rs372921526 0.00013
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) rs376362072 0.00012
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg) rs142165666 0.00011
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.1763C>A (p.Ala588Glu) rs377433853 0.00009
NM_022437.3(ABCG8):c.551G>A (p.Arg184His) rs766212636 0.00009
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.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala) rs373610655 0.00008
NM_022437.3(ABCG8):c.370G>A (p.Gly124Ser) rs143276716 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.586C>T (p.Arg196Trp) rs200433692 0.00007
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) rs373560827 0.00006
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00006
NM_022437.3(ABCG8):c.1736A>T (p.Asn579Ile) rs767847167 0.00006
NM_022437.3(ABCG8):c.1752G>C (p.Trp584Cys) rs754182905 0.00006
NM_022437.3(ABCG8):c.1754C>T (p.Thr585Ile) rs1186922426 0.00006
NM_022437.3(ABCG8):c.1837T>C (p.Tyr613His) rs189249032 0.00006
NM_022437.3(ABCG8):c.1869G>T (p.Ala623=) rs775757593 0.00006
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) rs373862876 0.00006
NM_022437.3(ABCG8):c.611G>A (p.Arg204His) rs144730815 0.00006
NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly) rs138925418 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022437.3(ABCG8):c.64-14C>T rs373055005 0.00005
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val) rs148185316 0.00004
NM_022437.3(ABCG8):c.1269G>T (p.Glu423Asp) rs762861929 0.00004
NM_022437.3(ABCG8):c.1411+1G>T rs774129955 0.00004
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.419C>T (p.Ser140Leu) rs781180097 0.00004
NM_022437.3(ABCG8):c.709G>A (p.Asp237Asn) rs201868259 0.00004
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) rs547583131 0.00004
NM_022437.3(ABCG8):c.749A>G (p.Asn250Ser) rs1444249475 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.1476T>A (p.Tyr492Ter) rs370422066 0.00003
NM_022437.3(ABCG8):c.1495G>A (p.Gly499Arg) rs368551459 0.00003
NM_022437.3(ABCG8):c.1852G>A (p.Gly618Arg) rs200005264 0.00003
NM_022437.3(ABCG8):c.215A>T (p.Lys72Met) rs766529813 0.00003
NM_022437.3(ABCG8):c.381C>T (p.Ile127=) rs759080514 0.00003
NM_022437.3(ABCG8):c.612C>T (p.Arg204=) rs1173124891 0.00003
NM_022437.3(ABCG8):c.652C>T (p.Arg218Cys) rs763000556 0.00003
NM_022437.3(ABCG8):c.694+7G>T rs777435511 0.00003
NM_022437.3(ABCG8):c.863C>T (p.Ser288Phe) rs373586893 0.00003
NM_022437.3(ABCG8):c.1107C>T (p.Asp369=) rs774622976 0.00002
NM_022437.3(ABCG8):c.1276C>G (p.Leu426Val) rs763933834 0.00002
NM_022437.3(ABCG8):c.130C>A (p.Pro44Thr) rs770421664 0.00002
NM_022437.3(ABCG8):c.1387G>A (p.Val463Ile) rs144061971 0.00002
NM_022437.3(ABCG8):c.1452C>T (p.Asp484=) rs185116698 0.00002
NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn) rs139612373 0.00002
NM_022437.3(ABCG8):c.1516G>T (p.Ala506Ser) rs777346950 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.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022437.3(ABCG8):c.1807C>G (p.Leu603Val) rs763348699 0.00002
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) rs137854891 0.00002
NM_022437.3(ABCG8):c.385T>A (p.Ser129Thr) rs752367556 0.00002
NM_022437.3(ABCG8):c.571G>A (p.Val191Met) rs201121311 0.00002
NM_022437.3(ABCG8):c.632G>A (p.Arg211Gln) rs777288244 0.00002
NM_022437.3(ABCG8):c.695-7T>C rs374648568 0.00002
NM_022437.3(ABCG8):c.938G>A (p.Arg313His) rs745365455 0.00002
NM_022437.3(ABCG8):c.949C>A (p.Pro317Thr) rs762542767 0.00002
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) rs751866338 0.00001
NM_022437.3(ABCG8):c.1061G>T (p.Arg354Leu) rs142346631 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.1220T>A (p.Ile407Asn) rs992386164 0.00001
NM_022437.3(ABCG8):c.1333T>G (p.Phe445Val) rs376492876 0.00001
NM_022437.3(ABCG8):c.1336A>G (p.Met446Val) rs774038687 0.00001
NM_022437.3(ABCG8):c.1366G>A (p.Gly456Ser) rs1367618593 0.00001
NM_022437.3(ABCG8):c.1385A>G (p.Asn462Ser) rs769333089 0.00001
NM_022437.3(ABCG8):c.1429A>G (p.Met477Val) rs373012474 0.00001
NM_022437.3(ABCG8):c.1444del (p.Leu482fs) rs748233241 0.00001
NM_022437.3(ABCG8):c.1453G>A (p.Gly485Arg) rs777641236 0.00001
NM_022437.3(ABCG8):c.1488+9G>A rs200207405 0.00001
NM_022437.3(ABCG8):c.1513T>C (p.Cys505Arg) rs1020921571 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.1569A>G (p.Pro523=) rs575386215 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NM_022437.3(ABCG8):c.1643C>T (p.Ala548Val) rs201258947 0.00001
NM_022437.3(ABCG8):c.168G>A (p.Val56=) rs973149684 0.00001
NM_022437.3(ABCG8):c.1691A>G (p.Asn564Ser) rs749742502 0.00001
NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg) rs750730480 0.00001
NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser) rs779861537 0.00001
NM_022437.3(ABCG8):c.1762G>A (p.Ala588Thr) rs748833010 0.00001
NM_022437.3(ABCG8):c.176C>A (p.Ala59Asp) rs749036339 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.1943T>C (p.Ile648Thr) rs1319856628 0.00001
NM_022437.3(ABCG8):c.1949T>G (p.Leu650Arg) rs1209143268 0.00001
NM_022437.3(ABCG8):c.322+5C>T rs377340438 0.00001
NM_022437.3(ABCG8):c.326G>A (p.Cys109Tyr) rs1037114607 0.00001
NM_022437.3(ABCG8):c.462C>A (p.His154Gln) rs1325379182 0.00001
NM_022437.3(ABCG8):c.579G>A (p.Ala193=) rs747555833 0.00001
NM_022437.3(ABCG8):c.593G>T (p.Arg198Met) rs777258651 0.00001
NM_022437.3(ABCG8):c.600C>T (p.Cys200=) rs770511598 0.00001
NM_022437.3(ABCG8):c.619A>G (p.Asn207Asp) rs141605800 0.00001
NM_022437.3(ABCG8):c.64-2A>G rs934115584 0.00001
NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp) rs775262569 0.00001
NM_022437.3(ABCG8):c.64G>A (p.Gly22Ser) rs373228989 0.00001
NM_022437.3(ABCG8):c.695-18C>T rs1390675561 0.00001
NM_022437.3(ABCG8):c.710A>T (p.Asp237Val) rs1163985023 0.00001
NM_022437.3(ABCG8):c.714A>G (p.Glu238=) rs1326764043 0.00001
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp) rs775957691 0.00001
NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter) rs371646728 0.00001
NM_022437.3(ABCG8):c.860C>T (p.Thr287Met) rs201133496 0.00001
NM_022437.3(ABCG8):c.954T>A (p.Ala318=) rs1342511943 0.00001
NM_022437.3(ABCG8):c.977G>A (p.Ser326Asn) rs202030766 0.00001
NM_022437.3(ABCG8):c.992G>A (p.Ser331Asn) rs751950437 0.00001
GRCh37/hg19 2p21(chr2:44087491-44109281)x3
NC_000002.11:g.(?_44099095)_(44105052_?)dup
NC_000002.11:g.(?_44100916)_(44105062_?)del
NM_022437.3(ABCG8):c.*6G>A rs1296583671
NM_022437.3(ABCG8):c.1002G>A (p.Gln334=)
NM_022437.3(ABCG8):c.1007T>C (p.Leu336Ser)
NM_022437.3(ABCG8):c.100A>G (p.Asn34Asp)
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1028A>G (p.Gln343Arg) rs2104945080
NM_022437.3(ABCG8):c.1046T>A (p.Phe349Tyr)
NM_022437.3(ABCG8):c.1070A>G (p.Asp357Gly) rs1232951681
NM_022437.3(ABCG8):c.1073A>G (p.Asp358Gly) rs1193359721
NM_022437.3(ABCG8):c.1078C>G (p.Leu360Val)
NM_022437.3(ABCG8):c.1127+14C>T
NM_022437.3(ABCG8):c.1127+15G>A
NM_022437.3(ABCG8):c.1127+5G>A
NM_022437.3(ABCG8):c.1127+6G>A
NM_022437.3(ABCG8):c.1128-4C>T
NM_022437.3(ABCG8):c.1131C>T (p.Ser377=)
NM_022437.3(ABCG8):c.1139C>T (p.Pro380Leu)
NM_022437.3(ABCG8):c.1140A>G (p.Pro380=)
NM_022437.3(ABCG8):c.1152C>G (p.Asn384Lys)
NM_022437.3(ABCG8):c.1169C>G (p.Thr390Arg) rs761465379
NM_022437.3(ABCG8):c.1170G>T (p.Thr390=) rs139902223
NM_022437.3(ABCG8):c.1180G>C (p.Gly394Arg) rs374156864
NM_022437.3(ABCG8):c.1185G>A (p.Ala395=)
NM_022437.3(ABCG8):c.1197T>C (p.Phe399=)
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1203G>A (p.Thr401=) rs886056033
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) rs1000291485
NM_022437.3(ABCG8):c.1211+10T>C rs201268110
NM_022437.3(ABCG8):c.1211+10T>G
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.1212-15C>T
NM_022437.3(ABCG8):c.1212-8T>A
NM_022437.3(ABCG8):c.1212-9G>C
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys) rs199553576
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
NM_022437.3(ABCG8):c.122G>A (p.Ser41Asn) rs772660192
NM_022437.3(ABCG8):c.1256_1257delinsAA (p.Ile419Lys) rs2104947166
NM_022437.3(ABCG8):c.1265C>T (p.Ala422Val)
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1288del (p.Thr430fs)
NM_022437.3(ABCG8):c.1291A>G (p.Ile431Val)
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) rs202176869
NM_022437.3(ABCG8):c.1294G>A (p.Gly432Ser)
NM_022437.3(ABCG8):c.1320C>T (p.Ser440=)
NM_022437.3(ABCG8):c.1335C>T (p.Phe445=)
NM_022437.3(ABCG8):c.1340A>G (p.Asp447Gly) rs989938038
NM_022437.3(ABCG8):c.1346C>T (p.Ala449Val) rs138711636
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
NM_022437.3(ABCG8):c.1356G>T (p.Leu452Phe)
NM_022437.3(ABCG8):c.1379C>G (p.Pro460Arg)
NM_022437.3(ABCG8):c.1405_1406del (p.Ser469fs)
NM_022437.3(ABCG8):c.1406C>A (p.Ser469Tyr) rs1553383620
NM_022437.3(ABCG8):c.1412-116T>A rs4952689
NM_022437.3(ABCG8):c.1412-116T>G rs4952689
NM_022437.3(ABCG8):c.1412-129dup rs368762671
NM_022437.3(ABCG8):c.1412-2A>G rs2104947953
NM_022437.3(ABCG8):c.1412-3dup
NM_022437.3(ABCG8):c.1412-9_1412-8insT rs138296512
NM_022437.3(ABCG8):c.1412-9_1412-8insTT
NM_022437.3(ABCG8):c.1423A>T (p.Arg475Trp)
NM_022437.3(ABCG8):c.144G>A (p.Glu48=)
NM_022437.3(ABCG8):c.1455G>T (p.Gly485=)
NM_022437.3(ABCG8):c.1469G>C (p.Gly490Ala) rs1262203792
NM_022437.3(ABCG8):c.1488+251dup rs142666542
NM_022437.3(ABCG8):c.1488+2T>G
NM_022437.3(ABCG8):c.1488+31_1488+33dup rs3841852
NM_022437.3(ABCG8):c.1488+32_1488+33dup rs3841852
NM_022437.3(ABCG8):c.1488+33dup rs3841852
NM_022437.3(ABCG8):c.1488+5C>T
NM_022437.3(ABCG8):c.1488+89T>C rs13405698
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.1505C>T (p.Pro502Leu)
NM_022437.3(ABCG8):c.1522A>G (p.Ile508Val) rs1553383983
NM_022437.3(ABCG8):c.1539G>A (p.Met513Ile)
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) rs558635043
NM_022437.3(ABCG8):c.1571G>A (p.Gly524Asp)
NM_022437.3(ABCG8):c.1590G>A (p.Leu530=)
NM_022437.3(ABCG8):c.1599G>T (p.Leu533=) rs1019461053
NM_022437.3(ABCG8):c.1611G>A (p.Leu537=) rs772981807
NM_022437.3(ABCG8):c.1619T>C (p.Phe540Ser)
NM_022437.3(ABCG8):c.1625G>A (p.Cys542Tyr)
NM_022437.3(ABCG8):c.1637C>T (p.Ala546Val) rs1025595416
NM_022437.3(ABCG8):c.1644C>T (p.Ala548=)
NM_022437.3(ABCG8):c.165+105G>C rs4148213
NM_022437.3(ABCG8):c.165+86A>C rs4148212
NM_022437.3(ABCG8):c.165+9A>G
NM_022437.3(ABCG8):c.1653C>A (p.Ala551=)
NM_022437.3(ABCG8):c.1657C>T (p.Leu553Phe) rs1273558414
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.1679C>T (p.Ser560Phe)
NM_022437.3(ABCG8):c.1703A>C (p.Asn568Thr) rs1467158220
NM_022437.3(ABCG8):c.1705T>C (p.Ser569Pro)
NM_022437.3(ABCG8):c.1709_1711del (p.Phe570del)
NM_022437.3(ABCG8):c.1717G>A (p.Ala573Thr)
NM_022437.3(ABCG8):c.172C>G (p.Leu58Val) rs769533045
NM_022437.3(ABCG8):c.1749G>A (p.Leu583=)
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.1756+16G>A
NM_022437.3(ABCG8):c.1756+6G>A rs375563605
NM_022437.3(ABCG8):c.1756+6G>T rs375563605
NM_022437.3(ABCG8):c.1756+82C>T rs4148222
NM_022437.3(ABCG8):c.1757-14C>T
NM_022437.3(ABCG8):c.1757-15G>A
NM_022437.3(ABCG8):c.1757-2A>G
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1757-87_1757-86del rs10609687
NM_022437.3(ABCG8):c.1761C>T (p.Pro587=)
NM_022437.3(ABCG8):c.1815G>A (p.Lys605=)
NM_022437.3(ABCG8):c.1817T>C (p.Ile606Thr) rs1553384611
NM_022437.3(ABCG8):c.1829GAA[1] (p.Arg611del) rs767706636
NM_022437.3(ABCG8):c.1832G>A (p.Arg611Lys)
NM_022437.3(ABCG8):c.1832G>C (p.Arg611Thr)
NM_022437.3(ABCG8):c.1852G>C (p.Gly618Arg) rs200005264
NM_022437.3(ABCG8):c.1858C>A (p.Leu620Ile)
NM_022437.3(ABCG8):c.1866C>A (p.Ile622=) rs1333721350
NM_022437.3(ABCG8):c.1875A>G (p.Ser625=)
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_022437.3(ABCG8):c.1884+10G>A
NM_022437.3(ABCG8):c.1884+10del
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.1894_1895inv (p.Val632Thr)
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718
NM_022437.3(ABCG8):c.1912T>C (p.Tyr638His)
NM_022437.3(ABCG8):c.1941C>T (p.Val647=) rs147991100
NM_022437.3(ABCG8):c.1957G>A (p.Gly653Ser)
NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter)
NM_022437.3(ABCG8):c.223T>G (p.Trp75Gly) rs2104912471
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
NM_022437.3(ABCG8):c.271C>T (p.Leu91=)
NM_022437.3(ABCG8):c.272T>G (p.Leu91Arg)
NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn)
NM_022437.3(ABCG8):c.284T>G (p.Val95Gly) rs2104912533
NM_022437.3(ABCG8):c.291T>C (p.Ser97=)
NM_022437.3(ABCG8):c.322+10A>G rs766026570
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.323-10G>A
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.361C>T (p.Arg121Ter) rs375005392
NM_022437.3(ABCG8):c.371G>A (p.Gly124Asp)
NM_022437.3(ABCG8):c.373G>A (p.Gly125Ser)
NM_022437.3(ABCG8):c.386C>A (p.Ser129Ter)
NM_022437.3(ABCG8):c.389G>T (p.Gly130Val) rs968485818
NM_022437.3(ABCG8):c.390C>G (p.Gly130=)
NM_022437.3(ABCG8):c.408del (p.Gln137fs)
NM_022437.3(ABCG8):c.420G>A (p.Ser140=)
NM_022437.3(ABCG8):c.450C>A (p.His150Gln)
NM_022437.3(ABCG8):c.451G>A (p.Val151Met)
NM_022437.3(ABCG8):c.470T>A (p.Leu157Gln) rs1553378066
NM_022437.3(ABCG8):c.474C>G (p.Leu158=) rs1317610779
NM_022437.3(ABCG8):c.474C>T (p.Leu158=)
NM_022437.3(ABCG8):c.479A>C (p.Asn160Thr)
NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)
NM_022437.3(ABCG8):c.512C>A (p.Ala171Asp)
NM_022437.3(ABCG8):c.521G>T (p.Arg174Leu)
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_022437.3(ABCG8):c.561+18G>A
NM_022437.3(ABCG8):c.562-14C>T
NM_022437.3(ABCG8):c.562-1G>C
NM_022437.3(ABCG8):c.562-204C>T rs74732112
NM_022437.3(ABCG8):c.570C>T (p.Asp190=)
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.577G>A (p.Ala193Thr)
NM_022437.3(ABCG8):c.583C>T (p.Leu195=) rs1427466962
NM_022437.3(ABCG8):c.584T>A (p.Leu195Gln)
NM_022437.3(ABCG8):c.598T>C (p.Cys200Arg)
NM_022437.3(ABCG8):c.610C>T (p.Arg204Cys)
NM_022437.3(ABCG8):c.613G>A (p.Val205Met)
NM_022437.3(ABCG8):c.613G>C (p.Val205Leu) rs373723529
NM_022437.3(ABCG8):c.622A>G (p.Met208Val)
NM_022437.3(ABCG8):c.627C>T (p.Tyr209=)
NM_022437.3(ABCG8):c.634G>T (p.Gly212Trp) rs746527671
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) rs202198142
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) rs1456237152
NM_022437.3(ABCG8):c.647del (p.Gly216fs) rs2104919976
NM_022437.3(ABCG8):c.653G>A (p.Arg218His)
NM_022437.3(ABCG8):c.687G>A (p.Trp229Ter) rs141909291
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.695-17CT[2] rs9282576
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.715C>T (p.Pro239Ser)
NM_022437.3(ABCG8):c.726G>C (p.Gly242=)
NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs) rs1558796310
NM_022437.3(ABCG8):c.730G>A (p.Asp244Asn)
NM_022437.3(ABCG8):c.742G>A (p.Ala248Thr)
NM_022437.3(ABCG8):c.743C>T (p.Ala248Val) rs533359544
NM_022437.3(ABCG8):c.745C>G (p.His249Asp) rs1553378371
NM_022437.3(ABCG8):c.751del (p.Leu251fs) rs763568449
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) rs1558811634
NM_022437.3(ABCG8):c.785A>G (p.Asn262Ser) rs1558811693
NM_022437.3(ABCG8):c.797T>C (p.Leu266Pro)
NM_022437.3(ABCG8):c.804C>G (p.Ser268=)
NM_022437.3(ABCG8):c.807C>T (p.Leu269=)
NM_022437.3(ABCG8):c.818G>A (p.Arg273His)
NM_022437.3(ABCG8):c.860C>A (p.Thr287Lys)
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp) rs769842021
NM_022437.3(ABCG8):c.888G>A (p.Ala296=) rs143182625
NM_022437.3(ABCG8):c.914C>A (p.Thr305Lys) rs536828373
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)
NM_022437.3(ABCG8):c.921C>T (p.Ile307=)
NM_022437.3(ABCG8):c.922G>T (p.Gly308Cys)
NM_022437.3(ABCG8):c.964+14G>A
NM_022437.3(ABCG8):c.964+1G>T
NM_022437.3(ABCG8):c.964+235A>G rs72796747
NM_022437.3(ABCG8):c.964+3G>A rs1356721220
NM_022437.3(ABCG8):c.965-11C>T rs748803910
NM_022437.3(ABCG8):c.965-19C>T
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022437.3(ABCG8):c.965-289G>T rs72798837
NM_022437.3(ABCG8):c.968A>T (p.Asp323Val)
NM_022437.3(ABCG8):c.977G>T (p.Ser326Ile)
NM_022437.3(ABCG8):c.984C>T (p.Asp328=)
NM_022437.3(ABCG8):c.997G>A (p.Glu333Lys)

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