List of variants in gene HPRT1 studied for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000194.3(HPRT1):c.486-11G>A	rs775260163	0.00024
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly)	rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly)	rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg)	rs137852500
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val)	rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val)	rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg)	rs137852485
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu)	rs137852482
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met)	rs137852477
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser)	rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser)	rs137852484
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile)	rs137852498
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu)	rs137852504
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly)	rs137852479
NM_000194.3(HPRT1):c.143G>A (p.Arg48His)	rs387906725
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe)	rs137852506

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.