List of variants reported as pathogenic for amino acid metabolism disease by Child Health and Human Development Program, Research Institute of the McGill University Health Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	rs121964962	0.00025
NM_000071.3(CBS):c.1224-2A>C	rs375846341	0.00008
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.313C>G (p.Leu105Val)	rs1601375543
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)	rs121964966
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	rs762065361
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.941T>C (p.Val314Ala)	rs1438933819

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