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The Challenge of VUSs
Variant architecture correlating variant type (inner ring) and clinical significance (outer ring) for variants with MAF less than 0.5% and located within the clinically relevant regions. Of all coding variants with MAF < 0.5%, missense variants represent the majority at 61.5%; of these missense variants, 70% are classified as VUSs. Abbreviations: Indel-In, in-frame indel; Indel-Fs, frameshift indel; Mit-Mir, mitochondrial and microRNA.
