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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

Download table as spreadsheet

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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.