ClinVar Miner

List of variants in gene ABCG8 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1412-8C>T rs28517482 0.65816
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.453G>A (p.Val151=) rs56132765 0.06877
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.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.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.1845G>C (p.Met615Ile) rs371711306 0.00015
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.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.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 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.1715T>C (p.Leu572Pro) rs769576789 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.2013A>G (p.Gln671=) rs373862876 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.1106A>T (p.Asp369Val) rs148185316 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.1125A>G (p.Glu375=) rs371968769 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.612C>T (p.Arg204=) rs1173124891 0.00003
NM_022437.3(ABCG8):c.652C>T (p.Arg218Cys) rs763000556 0.00003
NM_022437.3(ABCG8):c.863C>T (p.Ser288Phe) rs373586893 0.00003
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.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.385T>A (p.Ser129Thr) rs752367556 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.1336A>G (p.Met446Val) rs774038687 0.00001
NM_022437.3(ABCG8):c.1366G>A (p.Gly456Ser) rs1367618593 0.00001
NM_022437.3(ABCG8):c.1429A>G (p.Met477Val) rs373012474 0.00001
NM_022437.3(ABCG8):c.1453G>A (p.Gly485Arg) rs777641236 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NM_022437.3(ABCG8):c.1762G>A (p.Ala588Thr) rs748833010 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.579G>A (p.Ala193=) rs747555833 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.714A>G (p.Glu238=) rs1326764043 0.00001
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp) rs775957691 0.00001
NM_022437.3(ABCG8):c.860C>T (p.Thr287Met) rs201133496 0.00001
NM_022437.3(ABCG8):c.*6G>A rs1296583671
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1070A>G (p.Asp357Gly) rs1232951681
NM_022437.3(ABCG8):c.1169C>G (p.Thr390Arg) rs761465379
NM_022437.3(ABCG8):c.1180G>C (p.Gly394Arg) rs374156864
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) rs1000291485
NM_022437.3(ABCG8):c.1211+10T>C rs201268110
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.1406C>A (p.Ser469Tyr) rs1553383620
NM_022437.3(ABCG8):c.1412-8dup rs1553383723
NM_022437.3(ABCG8):c.1469G>C (p.Gly490Ala) rs1262203792
NM_022437.3(ABCG8):c.1522A>G (p.Ile508Val) rs1553383983
NM_022437.3(ABCG8):c.1611G>A (p.Leu537=) rs772981807
NM_022437.3(ABCG8):c.1637C>T (p.Ala546Val) rs1025595416
NM_022437.3(ABCG8):c.1657C>T (p.Leu553Phe) rs1273558414
NM_022437.3(ABCG8):c.172C>G (p.Leu58Val) rs769533045
NM_022437.3(ABCG8):c.1756+6G>A rs375563605
NM_022437.3(ABCG8):c.1756+6G>T rs375563605
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1817T>C (p.Ile606Thr) rs1553384611
NM_022437.3(ABCG8):c.1852G>C (p.Gly618Arg) rs200005264
NM_022437.3(ABCG8):c.1884+9G>A rs759152941
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.322+10A>G rs766026570
NM_022437.3(ABCG8):c.389G>T (p.Gly130Val) rs968485818
NM_022437.3(ABCG8):c.470T>A (p.Leu157Gln) rs1553378066
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.613G>C (p.Val205Leu) rs373723529
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.72_73delinsC (p.Gln24fs) rs1558796310
NM_022437.3(ABCG8):c.745C>G (p.His249Asp) rs1553378371
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.866G>A (p.Gly289Asp) rs769842021
NM_022437.3(ABCG8):c.965-1G>C rs957176669

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