ClinVar Miner

List of variants studied for Dihydropteridine reductase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) rs757483045 0.00003
NM_000320.3(QDPR):c.545+1G>A rs761619802 0.00003
NM_000320.3(QDPR):c.1A>T (p.Met1Leu) rs1034528249 0.00002
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) rs104893863 0.00001
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
NM_000320.3(QDPR):c.434C>T (p.Pro145Leu)
NM_000320.3(QDPR):c.436+2552A>G
NM_000320.3(QDPR):c.451G>A (p.Gly151Ser)
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn) rs2108987681
NM_000320.3(QDPR):c.516del (p.Ala175fs)
NM_000320.3(QDPR):c.73C>T (p.Arg25Ter)

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.