List of variants in gene combination LOC129992304, QDPR reported as uncertain significance for Dihydropteridine reductase deficiency

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000320.3(QDPR):c.29C>T (p.Ala10Val)	rs371735382	0.00010
NM_000320.3(QDPR):c.7G>A (p.Ala3Thr)	rs769620717	0.00006
NM_000320.3(QDPR):c.35G>A (p.Arg12Gln)	rs780483113	0.00003
NM_000320.3(QDPR):c.55A>T (p.Arg19Trp)	rs1431359277	0.00001
NM_000320.3(QDPR):c.8C>T (p.Ala3Val)	rs759025201	0.00001
NM_000320.3(QDPR):c.-17G>T	rs560782260
NM_000320.3(QDPR):c.11C>T (p.Ala4Val)
NM_000320.3(QDPR):c.24C>T (p.Gly8=)
NM_000320.3(QDPR):c.37G>A (p.Val13Met)
NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del)	rs762480653
NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup)	rs762480653
NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla)
NM_000320.3(QDPR):c.5C>T (p.Ala2Val)
NM_000320.3(QDPR):c.67G>A (p.Gly23Ser)
NM_000320.3(QDPR):c.68G>C (p.Gly23Ala)	rs104893863
NM_000320.3(QDPR):c.70T>G (p.Ser24Ala)
NM_000320.3(QDPR):c.91C>T (p.Arg31Trp)	rs2108999046
NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)

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.