List of variants in gene QDPR reported as pathogenic for amino acid metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000320.3(QDPR):c.545+1G>A	rs761619802	0.00003
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)	rs1407920390	0.00001
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser)	rs769460415	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.(?_17488754)_(17513677_?)del
NC_000004.11:g.(?_17510874)_(17513677_?)del
NM_000320.3(QDPR):c.106T>C (p.Trp36Arg)	rs104893865
NM_000320.3(QDPR):c.174del (p.Ser59fs)	rs1577195951
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
NM_000320.3(QDPR):c.198+1G>A	rs2108997263
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter)	rs104893867
NM_000320.3(QDPR):c.278del (p.Gly93fs)
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly)	rs104893864
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup)	rs2108993008
NM_000320.3(QDPR):c.383_407del (p.Glu128fs)	rs2108992958
NM_000320.3(QDPR):c.421del (p.Leu141fs)	rs1577191558
NM_000320.3(QDPR):c.437-429A>G	rs2108987974
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys)	rs104893866
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn)	rs2108987681
NM_000320.3(QDPR):c.523del (p.Ala175fs)
NM_000320.3(QDPR):c.576del (p.Lys192fs)
NM_000320.3(QDPR):c.609dup (p.Pro204fs)
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter)	rs1362475419
NM_000320.3(QDPR):c.629+2T>C

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