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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_004937.3(CTNS):c.886G>A (p.Gly296Ser)	rs755702977	0.00001
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter)	rs2146705998
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs)	rs1553344107
NM_001605.3(AARS1):c.1897del (p.Arg633fs)	rs2152154412
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser)	rs1555539157
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe)	rs2152170413
NM_004937.3(CTNS):c.462-27_462-3del	rs1555563374
NM_004937.3(CTNS):c.768dup (p.Val257fs)	rs1567713938
NM_014270.5(SLC7A9):c.235+1del
NM_014270.5(SLC7A9):c.348C>G (p.Ser116Arg)	rs1968893018

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