Fig. 4

Reportable DSD variants identified in patients with 46,XY DSD. Variants were identified in 28 of a total of 64 diagnostic DSD genes. The number of previously reported (as disease causing) and unreported changes found in each diagnostic DSD gene as well as the type of change identified (missense or null variants) are shown (all variants can be found in Additional file 1: Table S1). The total number of variants is shown for each gene. The clinical relevance of each variant was checked in ClinVar, HMGD, and OMIM databases and for prior publication in PubMed