Skip to main content
. Author manuscript; available in PMC: 2019 Jul 17.
Published in final edited form as: Gene. 2015 Sep 8;573(2):177–187. doi: 10.1016/j.gene.2015.08.062

Table 3: SCN5A genetic variation in the general population.

Frequencies of different types of variants with a minor allele frequency of <1% in the general population as can be found in the databases of Exome Variant Server (EVS) (http://evs.gs.washington.edu/EVS/) and Exome Aggregation Consortium (ExAC) (http://exac.broadinstitute.org/)

Type of mutation frequency in EVS (n>6500) Frequency in ExAC (n>120,000)
Missense 1.89% 7.40%
Splice 0.02% 0.01%
Stopgain - 0.01%
Frameshift - 0.01%
In frame deletion - 0.02%
Total 1.91% 7.45%