ClinVar Miner

List of variants reported as likely benign for Tyrosinemia type I by Illumina Laboratory Services, Illumina

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012

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