List of variants studied for amino acid metabolism disease by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)	rs139751598	0.00004
NM_006907.4(PYCR1):c.540+1G>A	rs752297179	0.00002
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)	rs770505872	0.00001
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)	rs863225045
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del)	rs2091467532
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)	rs1598358440

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