List of variants studied for amino acid metabolism disease by Institute of Human Genetics, University Hospital of Duesseldorf

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.18094
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00028
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg)	rs988395114
NM_000161.3(GCH1):c.689T>C (p.Met230Thr)	rs2140038798
NM_000372.5(TYR):c.440C>G (p.Ser147Ter)
NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)	rs775829854
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile)
NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	rs1555889130
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)

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