Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in females. Whole-gene deletion and loss-of-function variants in TBX6have been identified in association with MRKHS. We aimed to expand the spectrum of TBX6variants in MRKHS and explore the biological effect of the variant alleles.