ClinVar Miner

List of variants studied for Tyrosinemia type I by Mendelics

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Total variants: 7
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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.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) rs1341466471 0.00001
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) rs1595899559 0.00001
NM_000137.4(FAH):c.1003_1004del (p.Val335fs) rs1595897345
NM_000137.4(FAH):c.61G>T (p.Val21Phe) rs2041065908
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) rs1595894742

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