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We identified 76 novel nsSNVs in 32 GH genes that have not been associated with a CDGH phenotype, and we experimentally validated two novel potentially damaging nsSNVs in the congenital sucrase-isomaltase deficiency gene SI. Our study provides a global view of human GH genes and disease-causing mutations, and serves as a discovery tool for novel damaging nsSNVs in CDGHs. © The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please e-mail [email protected] cytokines