List of variants reported as pathogenic for disorder of tyrosine metabolism by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00028
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	rs28941783	0.00016
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000137.4(FAH):c.554-1G>T	rs80338895	0.00010
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val)	rs544956641	0.00006
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)	rs761817519	0.00001
NM_000137.4(FAH):c.697del (p.Asp233fs)	rs2142101046
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)

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