List of variants reported as likely benign for amino acid metabolism disease by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)	rs35719359	0.04130
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	rs34442879	0.00790
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000255.4(MMUT):c.754-7del	rs750770186
NM_001875.5(CPS1):c.3928-8del	rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del	rs397703682

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