List of variants studied for Tyrosinemia type I by Myriad Genetics, Inc.

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		ClinVar version:

Total variants: 14

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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.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000137.4(FAH):c.192G>T (p.Gln64His)	rs80338894	0.00001
NM_000137.4(FAH):c.192+1G>T	rs786204683
NM_000137.4(FAH):c.244A>T (p.Arg82Ter)
NM_000137.4(FAH):c.394C>T (p.Gln132Ter)	rs2041155591
NM_000137.4(FAH):c.580A>T (p.Lys194Ter)
NM_000137.4(FAH):c.835C>T (p.Gln279Ter)	rs2041255686
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)	rs2041271608
NM_000137.4(FAH):c.919G>T (p.Gly307Ter)	rs2041294652
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)	rs2041316956

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