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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
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.425A>G (p.Asp142Gly)	rs138542030	0.00014
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)	rs147257284	0.00010
NM_000320.3(QDPR):c.29C>T (p.Ala10Val)	rs371735382	0.00010
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.7G>A (p.Ala3Thr)	rs769620717	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.35G>A (p.Arg12Gln)	rs780483113	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.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.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.55A>T (p.Arg19Trp)	rs1431359277	0.00001
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr)	rs777797545	0.00001
NM_000320.3(QDPR):c.8C>T (p.Ala3Val)	rs759025201	0.00001
NC_000004.11:g.(?_17488754)_(17513677_?)dup
NC_000004.11:g.(?_17513553)_(17513677_?)dup
NM_000320.3(QDPR):c.11C>T (p.Ala4Val)
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.24C>T (p.Gly8=)
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.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.37G>A (p.Val13Met)
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del)	rs762480653
NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup)	rs762480653
NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla)
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.482G>T (p.Cys161Phe)
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
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.5C>T (p.Ala2Val)
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.67G>A (p.Gly23Ser)
NM_000320.3(QDPR):c.689T>C (p.Val230Ala)	rs761568067
NM_000320.3(QDPR):c.68G>C (p.Gly23Ala)	rs104893863
NM_000320.3(QDPR):c.70T>G (p.Ser24Ala)
NM_000320.3(QDPR):c.91C>T (p.Arg31Trp)	rs2108999046
NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)

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