List of variants reported as pathogenic for Tyrosinemia type I by Baylor Genetics

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Total variants: 31

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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.786G>A (p.Trp262Ter)	rs80338899	0.00009
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)	rs121965075	0.00008
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)	rs970505762	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)	rs121965076	0.00002
NM_000137.4(FAH):c.707-1G>A	rs149052294	0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)	rs769550316	0.00002
NM_000137.4(FAH):c.192G>T (p.Gln64His)	rs80338894	0.00001
NM_000137.4(FAH):c.548_553+20del	rs768180953	0.00001
NM_000137.4(FAH):c.982C>T (p.Gln328Ter)	rs765134063	0.00001
NM_000137.4(FAH):c.1030del (p.Asp344fs)	rs747546798
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.1180+1G>A	rs980415517
NM_000137.4(FAH):c.192+1G>T	rs786204683
NM_000137.4(FAH):c.315-2A>G	rs1555440603
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)	rs1420414848
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)	rs1057516679
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	rs370686447
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816
NM_000137.4(FAH):c.607-1G>A	rs771712041
NM_000137.4(FAH):c.698A>T (p.Asp233Val)	rs80338897
NM_000137.4(FAH):c.707-1G>C	rs149052294
NM_000137.4(FAH):c.718C>T (p.Gln240Ter)
NM_000137.4(FAH):c.744del (p.Pro249fs)	rs750741137
NM_000137.4(FAH):c.785G>A (p.Trp262Ter)
NM_000137.4(FAH):c.82-1G>A	rs1247460110
NM_000137.4(FAH):c.914-2A>T
NM_000137.4(FAH):c.974C>T (p.Thr325Met)	rs770713168

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