Fig. 1: Curation of ClinVar and pLoF variants across the monogenic conditions. | Nature Communications

Fig. 1: Curation of ClinVar and pLoF variants across the monogenic conditions.

From: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Fig. 1

Total number of curated ClinVar/Review (blue) and pLoF (red) variants with carriers in AMP-T2D-GENES (left panel) and UKB (right panel). Darker color shades indicate variants determined to be clinically significant (pathogenic, likely pathogenic, or pLoF) and lighter shades indicate variants excluded during curation from further analysis.

Back to article page