List of variants reported as likely pathogenic for amino acid metabolism disease by Institute of Human Genetics, University of Goettingen

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1101C>A (p.His367Gln)	rs139091458	0.00001
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe)	rs2141861661
NM_015629.4(PRPF31):c.945+2T>G	rs2146437002

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