List of variants in gene UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	rs35003977	0.00034
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys)	rs767764203	0.00016
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)	rs375974892	0.00006
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	rs587784538	0.00001
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu)
NM_000463.3(UGT1A1):c.244C>T (p.Pro82Ser)
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	rs748219743
NM_000463.3(UGT1A1):c.395A>G (p.His132Arg)
NM_000463.3(UGT1A1):c.596C>G (p.Ser199Cys)
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)	rs72551343
NM_000463.3(UGT1A1):c.673G>A (p.Val225Met)
NM_000463.3(UGT1A1):c.793C>T (p.Pro265Ser)

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.