ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_001072.4(UGT1A6):c.*201G>A rs541532523
NM_001072.4(UGT1A6):c.*211T>C rs10929303
NM_001072.4(UGT1A6):c.*339G>C rs1042640
NM_001072.4(UGT1A6):c.*440G>C rs8330
NM_001072.4(UGT1A6):c.*585G>T rs886055800
NM_001072.4(UGT1A6):c.1003C>T (p.Arg335Trp) rs139607673
NM_001072.4(UGT1A6):c.1018C>T (p.Arg340Ter) rs72551349
NM_001072.4(UGT1A6):c.1067A>G (p.Gln356Arg) rs72551351
NM_001072.4(UGT1A6):c.1082-2A>G rs587776766
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.1119T>C (p.Gly373=) rs139698110
NM_001072.4(UGT1A6):c.1121C>T (p.Ser374Phe) rs72551353
NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) rs28934877
NM_001072.4(UGT1A6):c.1204C>T (p.Arg402Cys) rs778766461
NM_001072.4(UGT1A6):c.1319T>C (p.Met440Thr) rs202172337
NM_001072.4(UGT1A6):c.1321C>T (p.Arg441Cys) rs143033456
NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) rs34993780
NM_001072.4(UGT1A6):c.1564C>T (p.Arg522Ter) rs770564267
NM_001072.4(UGT1A6):c.862-5882G>C rs587776764
NM_001072.4(UGT1A6):c.862-5907C>A rs281865418
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001072.4(UGT1A6):c.862-6122C>T rs72551343
NM_001072.4(UGT1A6):c.862-6125_862-6122dup rs766536479
NM_001072.4(UGT1A6):c.862-6138_862-6115del rs1553620849
NM_001072.4(UGT1A6):c.862-6223T>A rs72551341
NM_001072.4(UGT1A6):c.862-6234_862-6232del rs587776762
NM_001072.4(UGT1A6):c.862-6270C>T rs199766420
NM_001072.4(UGT1A6):c.862-6273_862-6272insT rs587776763
NM_001072.4(UGT1A6):c.862-6394dup rs748219743
NM_001072.4(UGT1A6):c.862-6447T>C rs374655757
NM_001072.4(UGT1A6):c.862-6453T>C rs138183896
NM_001072.4(UGT1A6):c.862-6525C>A rs72551340
NM_001072.4(UGT1A6):c.862-6602C>T rs587776765
NM_001072.4(UGT1A6):c.862-6703T>G rs111033541
NM_001072.4(UGT1A6):c.874_887delinsA (p.Tyr292fs) rs587776761
NM_001072.4(UGT1A6):c.920G>A (p.Gly307Glu) rs62625011
NM_001072.4(UGT1A6):c.988C>T (p.Gln330Ter) rs111033539
NM_001072.4(UGT1A6):c.989A>G (p.Gln330Arg) rs72551348
NM_001072.4(UGT1A6):c.993+15T>C rs4148327
UGT1A1*28 rs3064744

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