ClinVar Miner

List of variants reported as likely pathogenic 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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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.864+1G>C rs587776764 0.00006
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
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.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.1330_1331del (p.Ser444fs)
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter)
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.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) rs587776762
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000463.3(UGT1A1):c.864+1G>A
NM_000463.3(UGT1A1):c.864+5G>T

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