List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported as likely pathogenic for Crigler-Najjar syndrome, type II

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
UGT1A1*6	rs4148323	0.01140
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	rs35003977	0.00035
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	rs34993780	0.00016
NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu)	rs200370335
NM_000463.3(UGT1A1):c.418del (p.Leu140fs)	rs2472956769
UGT1A1*28	rs3064744

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.