List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Genetics Research Center, University of Social Welfare and Rehabilitation Sciences

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.1060-1G>T	rs863223339
NM_000350.3(ABCA4):c.2927del (p.Leu976fs)	rs863223338
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)	rs863223344
NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)	rs863223343
NM_006269.2(RP1):c.679T>G (p.Phe227Val)	rs863223340
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)	rs779007169
NM_201253.3(CRB1):c.1459dup (p.Ser487fs)	rs863223342
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)	rs863223341

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