ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinemia type I by Invitae

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NC_000015.9:g.(?_80450392)_(80450522_?)del
NM_000137.4(FAH):c.1025dup (p.Asp344fs) rs2041318487
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg) rs1297118863
NM_000137.4(FAH):c.1A>C (p.Met1Leu) rs1057517972
NM_000137.4(FAH):c.34T>C (p.Phe12Leu)
NM_000137.4(FAH):c.364+2T>C rs1595890740
NM_000137.4(FAH):c.364+2T>G rs1595890740
NM_000137.4(FAH):c.365-2A>G
NM_000137.4(FAH):c.386C>T (p.Ser129Phe)
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.455+1G>A
NM_000137.4(FAH):c.456-1G>A
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.553+1G>A
NM_000137.4(FAH):c.553+2del
NM_000137.4(FAH):c.566_606+62del
NM_000137.4(FAH):c.606+1G>A rs773450608
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.706+1G>A
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.81+2T>G rs772895065
NM_000137.4(FAH):c.82-1G>A rs1247460110
NM_000137.4(FAH):c.82-1G>C
NM_000137.4(FAH):c.914-1G>A rs2142105483
NM_000137.4(FAH):c.960+2T>C rs2142105542

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