ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinemia type I

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Total variants: 109
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HGVS dbSNP gnomAD frequency
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.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000137.4(FAH):c.620G>A (p.Gly207Asp) rs754196530 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.1190del (p.Gln397fs) rs786204551 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.315-3C>G rs1171235203 0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs) rs779642226 0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg) rs774861939 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg) rs121965078 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NC_000015.9:g.(?_80450392)_(80450522_?)del
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)
NM_000137.4(FAH):c.1025dup (p.Asp344fs) rs2041318487
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)
NM_000137.4(FAH):c.1063-2A>G rs1555442385
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.4(FAH):c.115dup (p.Gln39fs)
NM_000137.4(FAH):c.1181-1G>A rs1057516333
NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg) rs1297118863
NM_000137.4(FAH):c.122T>C (p.Leu41Pro) rs2041114940
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.4(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000137.4(FAH):c.193-2A>G rs1555440522
NM_000137.4(FAH):c.1A>C (p.Met1Leu) rs1057517972
NM_000137.4(FAH):c.205del (p.Ser69fs)
NM_000137.4(FAH):c.244A>T (p.Arg82Ter)
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.301G>T (p.Glu101Ter)
NM_000137.4(FAH):c.314+1G>A rs1057516408
NM_000137.4(FAH):c.314+1G>T
NM_000137.4(FAH):c.315-1G>A
NM_000137.4(FAH):c.315-2A>G rs1555440603
NM_000137.4(FAH):c.328C>T (p.Gln110Ter) rs754444882
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.394C>T (p.Gln132Ter) rs2041155591
NM_000137.4(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.455+1G>A
NM_000137.4(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.4(FAH):c.456-1G>A
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000137.4(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.509G>T (p.Gly170Val)
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.532G>T (p.Gly178Ter)
NM_000137.4(FAH):c.53C>T (p.Pro18Leu) rs2041065794
NM_000137.4(FAH):c.553+1G>A
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.553+2del
NM_000137.4(FAH):c.553+5G>A
NM_000137.4(FAH):c.566_606+62del
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
NM_000137.4(FAH):c.580A>T (p.Lys194Ter)
NM_000137.4(FAH):c.606+1G>A rs773450608
NM_000137.4(FAH):c.606+1G>T
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.4(FAH):c.615dup (p.Val206fs) rs1057517084
NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)
NM_000137.4(FAH):c.706+1G>A
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
NM_000137.4(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) rs1595894742
NM_000137.4(FAH):c.780_781del (p.Pro261fs) rs1057517436
NM_000137.4(FAH):c.806_807dup (p.Met270fs)
NM_000137.4(FAH):c.81+2T>C rs772895065
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.835C>T (p.Gln279Ter) rs2041255686
NM_000137.4(FAH):c.838-2A>G
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) rs1555441852
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
NM_000137.4(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.4(FAH):c.910A>T (p.Lys304Ter) rs2041271608
NM_000137.4(FAH):c.913+2T>C
NM_000137.4(FAH):c.914-1G>A rs2142105483
NM_000137.4(FAH):c.919G>T (p.Gly307Ter) rs2041294652
NM_000137.4(FAH):c.960+1G>A rs1057517201
NM_000137.4(FAH):c.960+2T>C rs2142105542
NM_000137.4(FAH):c.961-2A>C rs1555442289
NM_000137.4(FAH):c.961-2A>G
NM_000137.4(FAH):c.971G>A (p.Trp324Ter) rs2041316956
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168

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