List of variants in gene combination BEST1, FTH1 reported as likely benign for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.*133T>C	rs1801621	0.03051
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)	rs1801390	0.02837
NM_002032.3(FTH1):c.*319G>A	rs75281081	0.02107
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	rs111326315	0.00867
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)	rs147192139	0.00047
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)	rs148060787	0.00043

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