HAND1 and atrial septal defect: The identified variants were also subjected to further cellular functional validation, electrophoretic mobility shift analysis (EMSA), and JASPAR database analysis.<h4>Results</h4>A total of 12 variants were identified in the promoter region of HAND1 gene, seven of which were found only in 10 ASD patients (g.3658 T > C [rs1287904093], g.3689 A > G, g.3714 G > A [rs140545341], g.3771 C > T [rs2113306555], g.3961 T > G, g.4411 A > T [rs1034236730], and g.4512 G > T) and three of the variants (g.3689 A > G, g.3961 T > G, and g.4512 G > T) were newly discovered.