| Study‡ | Size of cohort | Genes tested | Reported mutations or rare variants† |
| Ackerman et al. [182] | 93 | SCN5A | A997S, R1826H |
| Tester and Ackerman [195] |
93 | KCNQ1 | T600M | | KCNH2 | | KCNE1 | | KCNE2 |
| Wedekind et al. [196] |
41 | SCN5A | — | | KCNQ1 | | KCNH2 | | KCNE1 | | KCNE2 |
| Plant et al. [197] | 133 | SCN5A | S524Y (2 cases), R689H, homozygous S1103Y (3 cases), E1107K |
| Cronk et al. [198] | 134 | CAV3 | V14L, T78M, L79R |
| Arnestad et al. [199] |
201 | SCN5A | S216L, delAL586-587, R680H, R1193Q (2 cases), T1304M, F1486L, V1951L, F2004L (3 cases), P2006A (2 cases) | | KCNQ1 | | KCNH2 | | KCNE1 | | KCNE2 | | KCNJ2 | | CAV3 |
| Tester et al. [200] | 134 | RYR2 | R2267H, S4565R |
| Van Norstrand et al. [201] | 221 | GPD1-L | I124V, R273C |
| Otagiri et al. [202] |
42 | SCN5A | F532C, G1084S, F1705S | | KCNQ1 | | KCNH2 |
| Millat et al. [203] |
32 | SCN5A | Q692K, R975W, S1333Y | | KCNQ1 | | KCNH2 | | KCNE1 | | KCNE2 |
| Cheng et al. [204] | 292 | SNTA1 | G54R, P56S (3 cases), T262P, S287R, T372M, G460S |
| Tan et al. [205] |
292 | SCN1B | — | | SCN2B | | SCN3B | | SCN4B |
| Tester et al. [206] | 292 | KCNJ8 | E332del, V346I |
| Hu et al. [207] | 292 | SCN1Bb | R214Q |
| Van Norstrand et al. [208] | 292 | GJA1 | E42K, S272P |
| Giudicessi et al. [209] | 292 | KCND3 | S530P |
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