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. 2021 Mar 5;61(2):212–225. doi: 10.1007/s12016-021-08838-5

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 3 — The relationship between variant effect size, allele frequency, and the diagnostic success rate in the field of PIDs. The triangles indicate variant effect, allele frequency, and diagnostic yield, ranging from highly impacting to weakly impacting, from extremely rare to common and from high to low, respectively. The characteristics of (severe) combined immunodeficiency ((S)CID), common variable immunodeficiency (CVID), and common disease are indicated in their approximate location within these three indicators