ClinVar Miner

List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported as likely pathogenic for bilirubin metabolism disease

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
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.182C>G (p.Ala61Gly) rs1273237448 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) rs72551351
NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu)
NM_000463.3(UGT1A1):c.2_17del (p.Met1fs) rs2125981899
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.418del (p.Leu140fs)
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) rs587784540
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln) rs1553620849
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe) rs1169717734
UGT1A1*28 rs3064744

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