List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00052
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)	rs781721860	0.00003
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)	rs144064367	0.00002
NM_000187.4(HGD):c.674G>A (p.Arg225His)	rs562853291	0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val)	rs62514933	0.00001
NM_000162.5(GCK):c.1225G>T (p.Asp409Tyr)
NM_000162.5(GCK):c.556C>T (p.Arg186Ter)	rs104894006
NM_000291.4(PGK1):c.887C>T (p.Ala296Val)	rs200543437
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	rs72558416
NM_001382347.1(MYO5A):c.2438G>A (p.Arg813His)
NM_001382347.1(MYO5A):c.5034C>G (p.Ile1678Met)
NM_006623.4(PHGDH):c.290+2T>C	rs886041874
NM_006623.4(PHGDH):c.670C>T (p.Gln224Ter)	rs2101198087

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