List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Dr.Nikuei Genetic Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_000191.3(HMGCL):c.349_361del
NM_000350.3(ABCA4):c.4793C>G (p.Ala1598Gly)	rs61750155
NM_001875.5(CPS1):c.3404G>C (p.Ser1135Thr)

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