ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.450C>T (p.Tyr150=) rs140949360 0.00037
NM_000320.3(QDPR):c.545+12G>A rs372540886 0.00029
NM_000320.3(QDPR):c.436+17C>G rs765346239 0.00014
NM_000320.3(QDPR):c.18T>C (p.Ala6=) rs940829956 0.00010
NM_000320.3(QDPR):c.273C>T (p.Ala91=) rs181584528 0.00009
NM_000320.3(QDPR):c.519C>T (p.Pro173=) rs368614041 0.00006
NM_000320.3(QDPR):c.621C>T (p.Phe207=) rs200518175 0.00006
NM_000320.3(QDPR):c.408C>T (p.Gly136=) rs3733569 0.00004
NM_000320.3(QDPR):c.629+18G>A rs758057470 0.00004
NM_000320.3(QDPR):c.630-20A>C rs769294923 0.00004
NM_000320.3(QDPR):c.534C>T (p.Ile178=) rs767857309 0.00002
NM_000320.3(QDPR):c.624A>G (p.Leu208=) rs757533596 0.00002
NM_000320.3(QDPR):c.147C>T (p.Ser49=) rs758659025 0.00001
NM_000320.3(QDPR):c.186G>A (p.Glu62=) rs771557010 0.00001
NM_000320.3(QDPR):c.296-18C>T rs770021666 0.00001
NM_000320.3(QDPR):c.296-7C>T rs376187471 0.00001
NM_000320.3(QDPR):c.318G>A (p.Leu106=) rs766832692 0.00001
NM_000320.3(QDPR):c.34C>A (p.Arg12=) rs1372264673 0.00001
NM_000320.3(QDPR):c.400T>C (p.Leu134=) rs775048498 0.00001
NM_000320.3(QDPR):c.423G>A (p.Leu141=) rs1553875093 0.00001
NM_000320.3(QDPR):c.444C>T (p.Ile148=) rs754982401 0.00001
NM_000320.3(QDPR):c.507C>T (p.Ser169=) rs774932503 0.00001
NM_000320.3(QDPR):c.545+14G>T rs775046749 0.00001
NM_000320.3(QDPR):c.546-9C>A rs764033550 0.00001
NM_000320.3(QDPR):c.102C>T (p.Asn34=) rs1357084602
NM_000320.3(QDPR):c.105+10C>G
NM_000320.3(QDPR):c.105+11G>C
NM_000320.3(QDPR):c.105+13G>A
NM_000320.3(QDPR):c.105+13G>T
NM_000320.3(QDPR):c.105+14C>T
NM_000320.3(QDPR):c.105+15T>C
NM_000320.3(QDPR):c.105+16G>C
NM_000320.3(QDPR):c.105+20C>G
NM_000320.3(QDPR):c.106-12T>C
NM_000320.3(QDPR):c.106-19del rs1303595690
NM_000320.3(QDPR):c.106-20A>C
NM_000320.3(QDPR):c.106-6T>C
NM_000320.3(QDPR):c.106-8C>T
NM_000320.3(QDPR):c.117C>T (p.Ser39=)
NM_000320.3(QDPR):c.123T>C (p.Asp41=)
NM_000320.3(QDPR):c.12G>A (p.Ala4=)
NM_000320.3(QDPR):c.132G>A (p.Glu44=)
NM_000320.3(QDPR):c.144C>T (p.Ala48=)
NM_000320.3(QDPR):c.177G>A (p.Ser59=)
NM_000320.3(QDPR):c.189G>A (p.Gln63=)
NM_000320.3(QDPR):c.18T>G (p.Ala6=)
NM_000320.3(QDPR):c.192T>C (p.Ala64=)
NM_000320.3(QDPR):c.198+13A>T
NM_000320.3(QDPR):c.198+15G>A
NM_000320.3(QDPR):c.198+17C>T
NM_000320.3(QDPR):c.198+18C>G
NM_000320.3(QDPR):c.198+19C>A
NM_000320.3(QDPR):c.199-15G>A
NM_000320.3(QDPR):c.199-18T>A
NM_000320.3(QDPR):c.199-4G>A
NM_000320.3(QDPR):c.199-7G>A
NM_000320.3(QDPR):c.201G>C (p.Val67=)
NM_000320.3(QDPR):c.201G>T (p.Val67=)
NM_000320.3(QDPR):c.204T>C (p.Thr68=)
NM_000320.3(QDPR):c.210G>A (p.Glu70=)
NM_000320.3(QDPR):c.219G>A (p.Lys73=)
NM_000320.3(QDPR):c.21A>C (p.Ala7=)
NM_000320.3(QDPR):c.228T>G (p.Gly76=)
NM_000320.3(QDPR):c.246A>C (p.Ala82=)
NM_000320.3(QDPR):c.249T>A (p.Ile83=)
NM_000320.3(QDPR):c.24C>G (p.Gly8=)
NM_000320.3(QDPR):c.261T>C (p.Ala87=)
NM_000320.3(QDPR):c.264A>C (p.Gly88=)
NM_000320.3(QDPR):c.279C>T (p.Gly93=)
NM_000320.3(QDPR):c.285C>G (p.Ala95=)
NM_000320.3(QDPR):c.295+12C>T
NM_000320.3(QDPR):c.295+19C>T
NM_000320.3(QDPR):c.296-14T>C
NM_000320.3(QDPR):c.296-15G>T rs776479029
NM_000320.3(QDPR):c.296-17A>C
NM_000320.3(QDPR):c.296-17A>G
NM_000320.3(QDPR):c.296-20C>T
NM_000320.3(QDPR):c.297T>C (p.Ser99=) rs1309099253
NM_000320.3(QDPR):c.309C>T (p.Asn103=)
NM_000320.3(QDPR):c.312T>C (p.Cys104=)
NM_000320.3(QDPR):c.327G>A (p.Lys109=)
NM_000320.3(QDPR):c.342A>G (p.Thr114=)
NM_000320.3(QDPR):c.345G>T (p.Ser115=)
NM_000320.3(QDPR):c.348C>T (p.Thr116=)
NM_000320.3(QDPR):c.351C>T (p.Ile117=)
NM_000320.3(QDPR):c.354C>T (p.Ser118=)
NM_000320.3(QDPR):c.361C>T (p.Leu121=)
NM_000320.3(QDPR):c.36G>A (p.Arg12=) rs2108999106
NM_000320.3(QDPR):c.36G>C (p.Arg12=)
NM_000320.3(QDPR):c.378C>A (p.Leu126=) rs2108992993
NM_000320.3(QDPR):c.390C>A (p.Gly130=)
NM_000320.3(QDPR):c.393C>T (p.Leu131=)
NM_000320.3(QDPR):c.399C>G (p.Thr133=) rs1331138236
NM_000320.3(QDPR):c.40C>T (p.Leu14=)
NM_000320.3(QDPR):c.420C>G (p.Ala140=)
NM_000320.3(QDPR):c.42G>A (p.Leu14=)
NM_000320.3(QDPR):c.436+11A>G rs1718566849
NM_000320.3(QDPR):c.436+19A>C
NM_000320.3(QDPR):c.437-10C>G
NM_000320.3(QDPR):c.437-10C>T
NM_000320.3(QDPR):c.437-11C>G
NM_000320.3(QDPR):c.437-15C>G
NM_000320.3(QDPR):c.437-17T>C
NM_000320.3(QDPR):c.437-18C>T
NM_000320.3(QDPR):c.437-20A>G
NM_000320.3(QDPR):c.437-5C>A
NM_000320.3(QDPR):c.437-5C>T rs2108987742
NM_000320.3(QDPR):c.437-9A>G
NM_000320.3(QDPR):c.45G>A (p.Val15=)
NM_000320.3(QDPR):c.468T>C (p.Ala156=)
NM_000320.3(QDPR):c.474C>T (p.His158=)
NM_000320.3(QDPR):c.483C>T (p.Cys161=)
NM_000320.3(QDPR):c.498G>A (p.Gly166=)
NM_000320.3(QDPR):c.504C>T (p.Asn168=)
NM_000320.3(QDPR):c.510C>T (p.Gly170=)
NM_000320.3(QDPR):c.516G>A (p.Pro172=) rs549416247
NM_000320.3(QDPR):c.516G>C (p.Pro172=) rs549416247
NM_000320.3(QDPR):c.516G>T (p.Pro172=)
NM_000320.3(QDPR):c.519C>G (p.Pro173=)
NM_000320.3(QDPR):c.51C>A (p.Gly17=)
NM_000320.3(QDPR):c.528C>T (p.Ala176=)
NM_000320.3(QDPR):c.531C>A (p.Ala177=)
NM_000320.3(QDPR):c.531C>T (p.Ala177=)
NM_000320.3(QDPR):c.545+14G>A
NM_000320.3(QDPR):c.545+18C>T
NM_000320.3(QDPR):c.545+19C>T
NM_000320.3(QDPR):c.545+8C>G
NM_000320.3(QDPR):c.545+9T>C
NM_000320.3(QDPR):c.546-11G>A
NM_000320.3(QDPR):c.546-20C>G rs2108986777
NM_000320.3(QDPR):c.546-7A>G
NM_000320.3(QDPR):c.54C>A (p.Gly18=)
NM_000320.3(QDPR):c.553C>T (p.Leu185=)
NM_000320.3(QDPR):c.558T>C (p.Asp186=)
NM_000320.3(QDPR):c.561C>T (p.Thr187=)
NM_000320.3(QDPR):c.564G>A (p.Pro188=)
NM_000320.3(QDPR):c.576A>G (p.Lys192=)
NM_000320.3(QDPR):c.603C>T (p.Ser201=) rs891408281
NM_000320.3(QDPR):c.60C>A (p.Gly20=)
NM_000320.3(QDPR):c.60C>T (p.Gly20=)
NM_000320.3(QDPR):c.612C>T (p.Pro204=)
NM_000320.3(QDPR):c.618A>G (p.Glu206=)
NM_000320.3(QDPR):c.629+11_629+12del
NM_000320.3(QDPR):c.629+16A>G
NM_000320.3(QDPR):c.629+17T>C rs2108986649
NM_000320.3(QDPR):c.629+9T>C rs113400069
NM_000320.3(QDPR):c.630-14A>G
NM_000320.3(QDPR):c.630-15T>C rs781122232
NM_000320.3(QDPR):c.630-19C>A
NM_000320.3(QDPR):c.630-20A>T
NM_000320.3(QDPR):c.630-23_630-20del
NM_000320.3(QDPR):c.630-4C>A
NM_000320.3(QDPR):c.636C>T (p.Phe212=) rs751389453
NM_000320.3(QDPR):c.639T>C (p.His213=)
NM_000320.3(QDPR):c.642C>T (p.Asp214=)
NM_000320.3(QDPR):c.666G>A (p.Pro222=)
NM_000320.3(QDPR):c.681A>C (p.Leu227=)
NM_000320.3(QDPR):c.6G>A (p.Ala2=)
NM_000320.3(QDPR):c.711G>A (p.Thr237=)
NM_000320.3(QDPR):c.717C>T (p.Leu239=)
NM_000320.3(QDPR):c.720C>A (p.Thr240=)
NM_000320.3(QDPR):c.723A>G (p.Pro241=)
NM_000320.3(QDPR):c.75A>C (p.Arg25=)
NM_000320.3(QDPR):c.81G>T (p.Val27=)
NM_000320.3(QDPR):c.90T>C (p.Phe30=)

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.