ACMG/AMP	American College of Medical Genetics and Genomics/Association for Molecular Pathology
API	Application Programming Interface
CADD	Combined Annotation-Dependent Depletion
cDNA	Complementary Deoxyribonucleic Acid
CDSRR	Cone Dystrophy with Supernormal Rod Responses
ClinVar	Public Archive of Relationships Between Human Variations and Phenotypes
CNVs	Copy Number Variations
GDB	The Russian Genetic Diversity Database
gnomAD	Genome Aggregation Database
GRCh38	Genome Reference Consortium Human Build 38
HGMD	Human Gene Mutation Database
LOVD	Leiden Open Variation Database (Leiden Open-source Variation Database)
NAB	N-terminal A box
NGS	Next-Generation Sequencing
SNVs	Single-Nucleotide Variants
VUS	Variant of Uncertain Significance