ClinVar Miner

List of variants in gene QDPR reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_000320.3(QDPR):c.450C>T (p.Tyr150=) rs140949360 0.00037
NM_000320.3(QDPR):c.*103C>T rs117036858 0.00029
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.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.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.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.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.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.199-7G>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.246A>C (p.Ala82=)
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+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>G
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.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.420C>G (p.Ala140=)
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.437-18C>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.468T>C (p.Ala156=)
NM_000320.3(QDPR):c.474C>T (p.His158=)
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.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.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.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.711G>A (p.Thr237=)
NM_000320.3(QDPR):c.717C>T (p.Leu239=)
NM_000320.3(QDPR):c.720C>A (p.Thr240=)

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