Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing

•Exon-targeted gene sequencing (ETGS) allows to screen genetic variants in Familial hypercholesterolemia (FH) patients and contributed to elucidate the molecular diagnosis in FH patients.•In silico prediction studies are useful to explore the potential effects of deleterious variants in FH-related genes.•Known deleterious variants in LDLR (27) and in APOB (1) were identified in the FHBGEP cohort.•Two PCSK9 gain-of-function variants and no deleterious variant in LDLRAP1 were detected the FHBGEP cohort.•Four novel variants were detected in LDLR (3), APOB (1) and PCSK9 (1) in the FHBGEP cohort.