ClinVar Miner

List of variants reported as pathogenic for Dihydropteridine reductase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.344C>T (p.Ser115Leu) rs1407920390 0.00001
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser) rs769460415 0.00001
NM_000320.3(QDPR):c.644G>A (p.Trp215Ter) rs778806991 0.00001
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) rs779997983 0.00001
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) rs104893863 0.00001
NC_000004.11:g.(?_17488754)_(17513677_?)del
NC_000004.11:g.(?_17510874)_(17513677_?)del
NC_000004.12:g.17490746del
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
NM_000320.3(QDPR):c.198+1G>A rs2108997263
NM_000320.3(QDPR):c.278del (p.Gly93fs)
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)
NM_000320.3(QDPR):c.436+2552A>G
NM_000320.3(QDPR):c.451G>A (p.Gly151Ser)
NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter) rs1171544975
NM_000320.3(QDPR):c.523del (p.Ala175fs)
NM_000320.3(QDPR):c.53del (p.Gly18fs) rs2108999089
NM_000320.3(QDPR):c.576del (p.Lys192fs)
NM_000320.3(QDPR):c.609dup (p.Pro204fs)
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter) rs1362475419
NM_000320.3(QDPR):c.629+1G>A
NM_000320.3(QDPR):c.629+2T>C

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.