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RUNX1 variant curation
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(continued from previous page) (C) Three-dimensional structure of the RHD of RUNX1 (blue) complexed to CBFβ (pink) and DNA (orange).82 ClinVar RUNX1 variants in this domain (codons 81 to 204 only) are shown using PyMOL, version 2.3.0, as follows: yellow = VUS (n=20), pink = CONF (n=2), orange = LPATH (n=3), red = PATH (n=5); BEN and LBEN variants (n=0). Non-missense variants are not shown. (D) One-dimensional line plot of somatic variants deposited with the Catalog of Somatic Mutations in Cancer (COSMIC: data release 3 Nov. 2018, version 87; https://cancer.sanger.ac.uk/cosmic). MM- VCEP: Myeloid Malignancy Variant Curation Expert Panel; PATH: pathogenic; LPATH: likely pathogenic; VUS: variant of uncer- tain significance; LBEN: likely benign; BEN: benign; CONF: conflicting interpretations in ClinVar.
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