ClinVar Miner

List of variants reported as benign for Tyrosinemia type I by Invitae

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000137.4(FAH):c.1180+4A>G rs60585303 0.04595
NM_000137.4(FAH):c.82-19G>A rs75733859 0.00966
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_000137.4(FAH):c.165C>T (p.Leu55=) rs28733633 0.00811
NM_000137.4(FAH):c.139A>G (p.Lys47Glu) rs34749737 0.00650
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000137.4(FAH):c.554-20T>G rs199501793 0.00272
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.456-20C>T rs75021564 0.00128
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_000137.4(FAH):c.837+9A>T rs369092208 0.00053
NM_000137.4(FAH):c.81+12G>A rs200319726 0.00048
NM_000137.4(FAH):c.870C>T (p.Asp290=) rs377480457 0.00011
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.543A>G (p.Lys181=) rs537190415

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