List of variants in gene combination LOC129992304, QDPR reported as pathogenic for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)	rs757483045	0.00003
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)	rs1034528249	0.00002
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)	rs104893863	0.00001
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)
NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter)	rs1171544975
NM_000320.3(QDPR):c.53del (p.Gly18fs)	rs2108999089
NM_000320.3(QDPR):c.73C>T (p.Arg25Ter)

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