ClinVar Miner

List of variants studied for bilirubin metabolism disease by Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_019844.4(SLCO1B3):c.727+2087T>C rs2417940 0.75026
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283 0.53370
NM_001371097.1(SLCO1B3-SLCO1B7):c.1865+19721C>T rs2117032 0.46485
NM_000463.3(UGT1A1):c.864+2925T>G rs4148324 0.36251
NM_000463.3(UGT1A1):c.864+2842G>T rs6742078 0.35807
NM_001072.4(UGT1A6):c.862-9898G>A rs10929302 0.29868
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA rs1559406508

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