ClinVar Miner

List of variants in gene ABCG8 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1411+90del rs10709506 0.88215
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.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.165+72A>T rs562598492 0.00259
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
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.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_022437.3(ABCG8):c.370G>A (p.Gly124Ser) rs143276716 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00006
NM_022437.3(ABCG8):c.1444del (p.Leu482fs) rs748233241 0.00001
NM_022437.3(ABCG8):c.593G>T (p.Arg198Met) rs777258651 0.00001
NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp) rs775262569 0.00001
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
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.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.1412-9_1412-8insT rs138296512
NM_022437.3(ABCG8):c.1488+251dup rs142666542
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+89T>C rs13405698
NM_022437.3(ABCG8):c.165+105G>C rs4148213
NM_022437.3(ABCG8):c.165+86A>C rs4148212
NM_022437.3(ABCG8):c.1756+15C>T rs78577353
NM_022437.3(ABCG8):c.1756+82C>T rs4148222
NM_022437.3(ABCG8):c.1757-87_1757-86del rs10609687
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718
NM_022437.3(ABCG8):c.562-204C>T rs74732112
NM_022437.3(ABCG8):c.964+235A>G rs72796747
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022437.3(ABCG8):c.965-289G>T rs72798837

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