Fig. 1: Representation of ClinVar variants in 807,162 individuals in gnomAD v4. | Nature Communications

Fig. 1: Representation of ClinVar variants in 807,162 individuals in gnomAD v4.

From: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Fig. 1

a Variant count of ClinVar variants in ClinVar (gray) vs. gnomAD (blue) in each classification category pathogenic/likely pathogenic (P/LP), variant of uncertain significance (VUS), benign/likely benign (B/LB) or with conflicting classifications. b Percentage of ClinVar variants reported in gnomAD in at least one individual. c The proportion of ClinVar variants in gnomAD by variant type within each clinical significance classification and, d by allele frequency bin. e Total number of P/LP variants within each allele count bin (including variants absent from gnomAD for comparison). f The inheritance pattern of the gene harboring the P/LP variants in gnomAD versus all variants in ClinVar, X-linked (XL), Autosomal dominant (AD), Autosomal recessive (AR).

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