List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Institute of Medical Molecular Genetics, University of Zurich

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	rs1555961852
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs)	rs2067180395
NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs)	rs2067179881
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)	rs2067164096
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)	rs1601920423
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)	rs2067138439
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)	rs1555961440

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