ClinVar Miner

List of variants in gene QDPR studied for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_000320.3(QDPR):c.*568T>G rs560933456 0.00230
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_000320.3(QDPR):c.600C>G (p.Ser200Arg) rs112242659 0.00063
NM_000320.3(QDPR):c.148G>A (p.Ala50Thr) rs143937910 0.00047
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00046
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.*612T>C rs776067259 0.00026
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly) rs138542030 0.00014
NM_000320.3(QDPR):c.436+17C>G rs765346239 0.00014
NM_000320.3(QDPR):c.*329T>G rs886059238 0.00013
NM_000320.3(QDPR):c.*31C>T rs377243912 0.00010
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser) rs147257284 0.00010
NM_000320.3(QDPR):c.273C>T (p.Ala91=) rs181584528 0.00009
NM_000320.3(QDPR):c.*278G>A rs765235173 0.00008
NM_000320.3(QDPR):c.274G>A (p.Gly92Arg) rs757963200 0.00007
NM_000320.3(QDPR):c.563C>T (p.Pro188Leu) rs374458448 0.00007
NM_000320.3(QDPR):c.199-10T>G rs200393206 0.00006
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.728A>G (p.Tyr243Cys) rs565356844 0.00005
NM_000320.3(QDPR):c.408C>T (p.Gly136=) rs3733569 0.00004
NM_000320.3(QDPR):c.436+16C>T rs187812666 0.00004
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys) rs767223209 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.118G>A (p.Val40Ile) rs769586091 0.00003
NM_000320.3(QDPR):c.176C>T (p.Ser59Leu) rs201345615 0.00003
NM_000320.3(QDPR):c.359A>G (p.His120Arg) rs148369556 0.00003
NM_000320.3(QDPR):c.409G>A (p.Ala137Thr) rs778631854 0.00003
NM_000320.3(QDPR):c.545+1G>A rs761619802 0.00003
NM_000320.3(QDPR):c.152G>A (p.Ser51Asn) rs187958701 0.00002
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.115A>C (p.Ser39Arg) rs987746060 0.00001
NM_000320.3(QDPR):c.147C>T (p.Ser49=) rs758659025 0.00001
NM_000320.3(QDPR):c.151A>G (p.Ser51Gly) rs1353342221 0.00001
NM_000320.3(QDPR):c.157A>G (p.Ile53Val) rs550966415 0.00001
NM_000320.3(QDPR):c.172G>A (p.Asp58Asn) rs1172704301 0.00001
NM_000320.3(QDPR):c.186G>A (p.Glu62=) rs771557010 0.00001
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg) rs1371078094 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.334A>G (p.Ile112Val) rs112686538 0.00001
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) rs1407920390 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.436+5G>C rs764651358 0.00001
NM_000320.3(QDPR):c.437G>C (p.Gly146Ala) rs144673363 0.00001
NM_000320.3(QDPR):c.444C>T (p.Ile148=) rs754982401 0.00001
NM_000320.3(QDPR):c.490C>G (p.Leu164Val) rs774366700 0.00001
NM_000320.3(QDPR):c.496G>A (p.Gly166Arg) rs768729528 0.00001
NM_000320.3(QDPR):c.507C>T (p.Ser169=) rs774932503 0.00001
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser) rs769460415 0.00001
NM_000320.3(QDPR):c.517C>G (p.Pro173Ala) rs1219263968 0.00001
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg) rs755535883 0.00001
NM_000320.3(QDPR):c.535G>A (p.Ala179Thr) rs761644688 0.00001
NM_000320.3(QDPR):c.545+14G>T rs775046749 0.00001
NM_000320.3(QDPR):c.545C>T (p.Pro182Leu) rs1364780551 0.00001
NM_000320.3(QDPR):c.546-2A>G rs1577184852 0.00001
NM_000320.3(QDPR):c.546-9C>A rs764033550 0.00001
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr) rs777797545 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
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
NC_000004.11:g.(?_17488754)_(17513677_?)del
NC_000004.11:g.(?_17488754)_(17513677_?)dup
NC_000004.11:g.(?_17510874)_(17513677_?)del
NC_000004.11:g.(?_17513553)_(17513677_?)dup
NM_000320.3(QDPR):c.*187A>C rs1717979575
NM_000320.3(QDPR):c.*277T>C rs1717973938
NM_000320.3(QDPR):c.*374G>C rs1717970851
NM_000320.3(QDPR):c.*450T>A rs886059237
NM_000320.3(QDPR):c.*46C>A rs567249048
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000320.3(QDPR):c.106-12T>C
NM_000320.3(QDPR):c.106-19del rs1303595690
NM_000320.3(QDPR):c.106-1G>C rs1428018512
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.106T>C (p.Trp36Arg) rs104893865
NM_000320.3(QDPR):c.106T>G (p.Trp36Gly)
NM_000320.3(QDPR):c.117C>T (p.Ser39=)
NM_000320.3(QDPR):c.121G>T (p.Asp41Tyr)
NM_000320.3(QDPR):c.123T>C (p.Asp41=)
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del)
NM_000320.3(QDPR):c.132G>A (p.Glu44=)
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser)
NM_000320.3(QDPR):c.144C>T (p.Ala48=)
NM_000320.3(QDPR):c.153C>G (p.Ser51Arg) rs2108997310
NM_000320.3(QDPR):c.163A>G (p.Lys55Glu)
NM_000320.3(QDPR):c.173A>C (p.Asp58Ala)
NM_000320.3(QDPR):c.174del (p.Ser59fs) rs1577195951
NM_000320.3(QDPR):c.177G>A (p.Ser59=)
NM_000320.3(QDPR):c.189G>A (p.Gln63=)
NM_000320.3(QDPR):c.190G>T (p.Ala64Ser) rs1480794443
NM_000320.3(QDPR):c.192T>C (p.Ala64=)
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
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.198+1G>A rs2108997263
NM_000320.3(QDPR):c.199-15G>A
NM_000320.3(QDPR):c.199-16dup rs1277522602
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.227G>A (p.Gly76Asp) rs2108994422
NM_000320.3(QDPR):c.240G>A (p.Val80=)
NM_000320.3(QDPR):c.246A>C (p.Ala82=)
NM_000320.3(QDPR):c.256G>A (p.Val86Ile) rs186929388
NM_000320.3(QDPR):c.261T>C (p.Ala87=)
NM_000320.3(QDPR):c.264A>C (p.Gly88=)
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg) rs1184906056
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) rs104893867
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr) rs147257284
NM_000320.3(QDPR):c.278del (p.Gly93fs)
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.308A>G (p.Asn103Ser) rs1248495029
NM_000320.3(QDPR):c.309C>T (p.Asn103=)
NM_000320.3(QDPR):c.311G>A (p.Cys104Tyr) rs2108993051
NM_000320.3(QDPR):c.312T>C (p.Cys104=)
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) rs104893864
NM_000320.3(QDPR):c.327G>A (p.Lys109=)
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly) rs1404740384
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile)
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.365C>A (p.Ala122Asp) rs1553875105
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup) rs2108993008
NM_000320.3(QDPR):c.374A>G (p.His125Arg) rs201283946
NM_000320.3(QDPR):c.378C>A (p.Leu126=) rs2108992993
NM_000320.3(QDPR):c.383_407del (p.Glu128fs) rs2108992958
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
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.412A>C (p.Lys138Gln) rs2108992947
NM_000320.3(QDPR):c.415G>C (p.Ala139Pro) rs779606633
NM_000320.3(QDPR):c.419C>A (p.Ala140Asp)
NM_000320.3(QDPR):c.420C>G (p.Ala140=)
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
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.437-429A>G rs2108987974
NM_000320.3(QDPR):c.437-5C>A
NM_000320.3(QDPR):c.437-5C>T rs2108987742
NM_000320.3(QDPR):c.437-6T>A rs886059239
NM_000320.3(QDPR):c.437-9A>G
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg) rs1028029163
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) rs104893866
NM_000320.3(QDPR):c.468T>C (p.Ala156=)
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000320.3(QDPR):c.474C>T (p.His158=)
NM_000320.3(QDPR):c.482G>T (p.Cys161Phe)
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
NM_000320.3(QDPR):c.486G>C (p.Gln162His) rs761732291
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn) rs2108987681
NM_000320.3(QDPR):c.504C>T (p.Asn168=)
NM_000320.3(QDPR):c.510C>T (p.Gly170=)
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
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.516del (p.Ala175fs)
NM_000320.3(QDPR):c.519C>G (p.Pro173=)
NM_000320.3(QDPR):c.523del (p.Ala175fs)
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+2dup rs1718190006
NM_000320.3(QDPR):c.545+8C>G
NM_000320.3(QDPR):c.545+9T>C
NM_000320.3(QDPR):c.545C>G (p.Pro182Arg)
NM_000320.3(QDPR):c.546-11G>A
NM_000320.3(QDPR):c.546-1G>A rs995264302
NM_000320.3(QDPR):c.546-20C>G rs2108986777
NM_000320.3(QDPR):c.546-7A>G
NM_000320.3(QDPR):c.546G>A (p.Pro182=) rs1176312266
NM_000320.3(QDPR):c.553C>T (p.Leu185=)
NM_000320.3(QDPR):c.556G>C (p.Asp186His)
NM_000320.3(QDPR):c.558T>C (p.Asp186=)
NM_000320.3(QDPR):c.560C>A (p.Thr187Asn) rs2108986735
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.576del (p.Lys192fs)
NM_000320.3(QDPR):c.578C>T (p.Ser193Leu) rs2108986715
NM_000320.3(QDPR):c.580A>G (p.Met194Val)
NM_000320.3(QDPR):c.603C>T (p.Ser201=) rs891408281
NM_000320.3(QDPR):c.609dup (p.Pro204fs)
NM_000320.3(QDPR):c.612C>T (p.Pro204=)
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter) rs1362475419
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+2T>C
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.630-20del rs746771741
NM_000320.3(QDPR):c.630-20dup
NM_000320.3(QDPR):c.630-23_630-20del
NM_000320.3(QDPR):c.630-4C>A
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)
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.647_655dup (p.Ile216_Gly218dup) rs757385912
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln) rs1478668973
NM_000320.3(QDPR):c.666G>A (p.Pro222=)
NM_000320.3(QDPR):c.668G>A (p.Ser223Asn)
NM_000320.3(QDPR):c.681A>C (p.Leu227=)
NM_000320.3(QDPR):c.689T>C (p.Val230Ala) rs761568067
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=)

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.