ClinVar Miner

List of variants in gene UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 studied for Gilbert syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000463.3(UGT1A1):c.*339G>C rs1042640 0.81209
NM_000463.3(UGT1A1):c.*211T>C rs10929303 0.73663
NM_000463.3(UGT1A1):c.*440G>C rs8330 0.72111
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000463.3(UGT1A1):c.864+2925T>G rs4148324 0.36251
NM_000463.3(UGT1A1):c.864+2842G>T rs6742078 0.35807
NC_000002.12:g.233757136G>A rs10929302 0.29868
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) rs57307513 0.00041
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00018
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) rs767764203 0.00016
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) rs138183896 0.00011
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_000463.3(UGT1A1):c.*84T>C rs78684540 0.00007
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) rs370790922 0.00007
NM_000463.3(UGT1A1):c.*269C>T rs762669023 0.00006
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) rs775532505 0.00006
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) rs375974892 0.00006
NM_000463.3(UGT1A1):c.864+1G>C rs587776764 0.00006
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) rs747942373 0.00005
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) rs199766420 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000463.3(UGT1A1):c.*461G>T rs142810023 0.00003
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) rs55750087 0.00003
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) rs778766461 0.00003
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala) rs140365717 0.00003
NM_000463.3(UGT1A1):c.*419T>C rs34942353 0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) rs772037816 0.00002
NM_000463.3(UGT1A1):c.72G>A (p.Val24=) rs764918207 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
NM_000463.3(UGT1A1):c.*188T>G rs200041554 0.00001
NM_000463.3(UGT1A1):c.*201G>A rs541532523 0.00001
NM_000463.3(UGT1A1):c.*674G>A rs1473113676 0.00001
NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln) rs780354743 0.00001
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) rs267599273 0.00001
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) rs28934877 0.00001
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) rs886044683 0.00001
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) rs769720139 0.00001
NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly) rs1273237448 0.00001
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) rs769310438 0.00001
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) rs374655757 0.00001
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) rs587784538 0.00001
NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys) rs145912061 0.00001
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly) rs754213125 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000463.2(UGT1A1):c.-53_-52insTA rs1559406508
NM_000463.3(UGT1A1):c.*133G>A rs561946796
NM_000463.3(UGT1A1):c.*301G>A rs1700551616
NM_000463.3(UGT1A1):c.*585G>T rs886055800
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) rs72551351
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val) rs748989741
NM_000463.3(UGT1A1):c.1135del (p.Tyr379fs)
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg) rs1559415403
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) rs1699600557
NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His) rs28934877
NM_000463.3(UGT1A1):c.1216_1225del (p.Thr406fs)
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000463.3(UGT1A1):c.1253del (p.Met418fs)
NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter) rs2126038122
NM_000463.3(UGT1A1):c.1304+1G>T rs2126038220
NM_000463.3(UGT1A1):c.1305-1G>A
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) rs202172337
NM_000463.3(UGT1A1):c.1330_1331del (p.Ser444fs)
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter)
NM_000463.3(UGT1A1):c.1387G>A (p.Glu463Lys)
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter) rs587776765
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) rs190427553
NM_000463.3(UGT1A1):c.16C>T (p.Gln6Ter)
NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe) rs2125984867
NM_000463.3(UGT1A1):c.247T>C (p.Phe83Leu)
NM_000463.3(UGT1A1):c.2_17del (p.Met1fs) rs2125981899
NM_000463.3(UGT1A1):c.300del (p.Phe100fs)
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) rs1697515818
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) rs1191873899
NM_000463.3(UGT1A1):c.449C>G (p.Thr150Arg)
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs) rs2125987779
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) rs587776762
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr) rs1373930486
NM_000463.3(UGT1A1):c.536T>A (p.Leu179Gln)
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000463.3(UGT1A1):c.725del (p.Val242fs) rs2125989471
NM_000463.3(UGT1A1):c.847C>T (p.Gln283Ter)
NM_000463.3(UGT1A1):c.864+1G>A
NM_000463.3(UGT1A1):c.864+5G>T
NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe) rs1169717734
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
UGT1A1*28 rs3064744

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