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. 2017 Feb 28;38(5):485–493. doi: 10.1002/humu.23191

Table 4.

Number of variants and annotations in the Ion Channels Variants Portal per channel and number of disease‐associated variants obtained from the ClinVar and neXtProt databases. The last row presents the proportion of naturally occurring variants from our set of variants for each channel

SCN1A SCN2A SCN3A SCN4A SCN5A SCN8A SCN9A SCN10A SCN11A Total
Number of observations 535 860 51 1,294 1,063 163 514 119 59 4,658
Number of variants 51 184 7 200 112 27 59 27 5 672
Number of disease‐associated variants 506 50 6 72 529 26 62 27 11 1,289
Proportion of natural variants 96% 12% 86% 20% 82% 22% 75% 27% 100%