List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Pediatric Genetics Clinic, Sheba Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)	rs201278558	0.00012
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs)	rs2138904272

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