ClinVar Miner

List of variants in gene UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 studied for Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
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.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000463.3(UGT1A1):c.864+1G>C rs587776764 0.00006
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
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.1021C>T (p.Arg341Ter) rs72551349 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.137C>T (p.Ala46Val) rs886044683 0.00001
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.1135del (p.Tyr379fs)
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg) rs1559415403
NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His) rs28934877
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000463.3(UGT1A1):c.1253del (p.Met418fs)
NM_000463.3(UGT1A1):c.1304+1G>T rs2126038220
NM_000463.3(UGT1A1):c.1305-1G>A
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.16C>T (p.Gln6Ter)
NM_000463.3(UGT1A1):c.300del (p.Phe100fs)
NM_000463.3(UGT1A1):c.449C>G (p.Thr150Arg)
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) rs587776762
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.847C>T (p.Gln283Ter)
NM_000463.3(UGT1A1):c.864+1G>A
NM_000463.3(UGT1A1):c.864+5G>T
UGT1A1*28 rs3064744

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