List of variants reported as pathogenic for Tyrosinemia type I by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00028
NM_000137.4(FAH):c.554-1G>T	rs80338895	0.00010
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.697del (p.Asp233fs)	rs2142101046

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