ClinVar Miner

List of variants in gene FAH reported as benign for Tyrosinemia type I

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.553+33A>G rs1545119 0.73027
NM_000137.4(FAH):c.838-196A>G rs11072883 0.72099
NM_000137.4(FAH):c.82-74T>C rs1370276 0.65071
NM_000137.4(FAH):c.961-35C>A rs2043691 0.61029
NM_000137.4(FAH):c.193-23T>C rs1370274 0.59414
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_000137.4(FAH):c.455+67T>C rs2114716 0.43155
NM_000137.4(FAH):c.960+115G>A rs2162550 0.25281
NM_000137.4(FAH):c.706+79A>G rs7180031 0.23394
NM_000137.3(FAH):c.*310T>A rs75212096 0.12315
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
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.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.455+29G>A rs2278204 0.01872
NM_000137.4(FAH):c.*88C>T rs113381157 0.01818
NM_000137.4(FAH):c.-34C>T rs142522569 0.01180
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.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.314+49G>A rs1370273
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.543A>G (p.Lys181=) rs537190415
NM_000137.4(FAH):c.554-15C>T rs774367598

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