List of variants in gene combination FAH, LOC112272621 reported as pathogenic for Tyrosinemia type I

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.315-3C>G	rs1171235203	0.00001
NM_000137.4(FAH):c.315-2A>G	rs1555440603
NM_000137.4(FAH):c.325del (p.Ser109fs)
NM_000137.4(FAH):c.328C>T (p.Gln110Ter)	rs754444882
NM_000137.4(FAH):c.354del (p.Ala119fs)	rs2041138762

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