ClinVar Miner

List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000463.3(UGT1A1):c.996+18C>T rs34650714 0.03716
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.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met) rs199723856 0.00011
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu) rs144978321 0.00006
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile) rs143573365 0.00006
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His) rs200370335 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val) rs1333719360 0.00004
NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val) rs144398951 0.00004
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) rs55750087 0.00003
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) rs397978903 0.00003
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) rs886043066 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) rs267599273 0.00001
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile) rs1279219087 0.00001
NM_000463.3(UGT1A1):c.471C>T (p.Ser157=) rs765894633 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His) rs1178608845
NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)
NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=)
NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del) rs771159962
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)
NM_000463.3(UGT1A1):c.57G>A (p.Val19=)
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.706G>C (p.Glu236Gln)
NM_000463.3(UGT1A1):c.741A>G (p.Leu247=)
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_000463.3(UGT1A1):c.996+1G>A rs2126030587
NM_019076.5(UGT1A8):c.1075+20T>G
NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)
NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=)
NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr)
UGT1A1*28 rs3064744
UGT1A1*36 rs3064744
UGT1A1*37 rs3064744

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