When going through a list of candidate variants, it can be helpful to know how many individuals in the population carry a variant in a given gene, i.e. is the gene frequently or rarely mutated in general? The individual variants you've observed might be novel, but if this is a frequently mutated gene and most of the population carry rare variants in the gene, then that finding is not so interesting. On the other hand, if the gene is highly intolerant of mutations in the general population, it is more likely that you have found the causal variant. Using SORVA, you can browse these frequency counts by gene and also by protein domain, and use these values to calculate how significant your findings are. Simply enter your variant filtering thresholds, the gene name, and details about the number of individuals sequenced to find your P-value.
Full details can be read in our manuscript, available here: Rao AR, Nelson SF. (2017) Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. BMC Med Genomics. 2018; 11: 53. doi: 10.1186/s12920-018-0371-9
You may run a single query here, or run it on a large set of genes by downloading our stand-alone program and data files.