ClinVar Miner

List of variants in gene QDPR reported as uncertain significance for Dihydropteridine reductase deficiency

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.*568T>G rs560933456 0.00230
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.*612T>C rs776067259 0.00026
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly) rs138542030 0.00014
NM_000320.3(QDPR):c.*329T>G rs886059238 0.00013
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser) rs147257284 0.00010
NM_000320.3(QDPR):c.*278G>A rs765235173 0.00008
NM_000320.3(QDPR):c.*31C>T rs377243912 0.00007
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.728A>G (p.Tyr243Cys) rs565356844 0.00005
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys) rs767223209 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.152G>A (p.Ser51Asn) rs187958701 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.287A>G (p.Lys96Arg) rs1371078094 0.00001
NM_000320.3(QDPR):c.334A>G (p.Ile112Val) rs112686538 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.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.545C>T (p.Pro182Leu) rs1364780551 0.00001
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr) rs777797545 0.00001
NC_000004.11:g.(?_17488754)_(17513677_?)dup
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.121G>T (p.Asp41Tyr)
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del)
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser)
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.190G>T (p.Ala64Ser) rs1480794443
NM_000320.3(QDPR):c.227G>A (p.Gly76Asp) rs2108994422
NM_000320.3(QDPR):c.240G>A (p.Val80=)
NM_000320.3(QDPR):c.256G>A (p.Val86Ile) rs186929388
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr) rs147257284
NM_000320.3(QDPR):c.296-15G>T rs776479029
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.311G>A (p.Cys104Tyr) rs2108993051
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly) rs1404740384
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile)
NM_000320.3(QDPR):c.365C>A (p.Ala122Asp) rs1553875105
NM_000320.3(QDPR):c.374A>G (p.His125Arg) rs201283946
NM_000320.3(QDPR):c.374A>T (p.His125Leu)
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
NM_000320.3(QDPR):c.410_421dup (p.Ala140_Leu141insProLysAlaAla)
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.437-6T>A rs886059239
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.545+2dup rs1718190006
NM_000320.3(QDPR):c.546G>A (p.Pro182=) rs1176312266
NM_000320.3(QDPR):c.556G>C (p.Asp186His)
NM_000320.3(QDPR):c.560C>A (p.Thr187Asn) rs2108986735
NM_000320.3(QDPR):c.567G>A (p.Met189Ile)
NM_000320.3(QDPR):c.578C>T (p.Ser193Leu) rs2108986715
NM_000320.3(QDPR):c.580A>G (p.Met194Val)
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.668G>A (p.Ser223Asn)
NM_000320.3(QDPR):c.689T>C (p.Val230Ala) rs761568067

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