Table 5.
Previously reported rare variants (AF < 0.001) detected in our cohort; LP/P variants are represented in bold letters.
| Gene | HGVSc | HGVSp | dbSNP ID | ClinVar ID | ClinVar Class | No. Cases |
|---|---|---|---|---|---|---|
| ACTN2 | c.2445C>T | p.Ile815= | rs397516575 | 43929 | LB | 1 |
| ANKRD1 | c.197G>A | p.Arg66Gln | rs150797476 | 45628 | LB | 1 |
| BRAF | c.95_100dupGCGCCG | p.Gly32_Ala33dup | rs397515331 | 41448 | VUS | 1 |
| CAV3 | c.39C>T | p.Ile13= | rs200562715 | 179005 | LB | 1 |
| CSRP3 | c.208G>T | p.Gly70Trp | rs777211110 | 520335 | VUS | 1 |
| GAA | c.762G>A | p.Ser254= | rs533960093 | 509666 | LB | 1 |
| GAA | c.899C>A | p.Ala300Glu | rs1032949450 | NA | NA | 1 |
| KLF10 | c.973G>A | p.Val325Ile | rs760040811 | NA | NA | 1 |
| LAMP2 | c.37G>T | p.Gly13Trp | rs12853266 | NA | NA | 1 |
| LDB3 | c.610G>A | p.Ala204Thr | rs774976112 | 626705 | CON (LB/VUS) | 1 |
| MAP2K1 | c.315C>T | p.Pro105= | rs144166521 | 44589 | B | 2 |
| MYBPC3 | c.3413G>C | p.Arg1138Pro | rs187705120 | 42712 | VUS | 2 |
| MYBPC3 | c.3294G>A | p.Trp1098Ter | rs767039057 | 520341 | P | 1 |
| MYBPC3 | c.3262C>G | p.Pro1088Ala | rs1263358939 | NA | NA | 1 |
| MYBPC3 | c.2882C>T | p.Pro961Leu | rs373056282 | 42665 | VUS | 1 |
| MYBPC3 | c.2441_2443delAGA * | p.Lys814del * | rs727504288 | 177700 | CON (VUS/LP) | 1 |
| MYBPC3 | c.1967C>T | p.Pro656Leu | rs927421140 | NA | NA | 2 |
| MYBPC3 | c.1316G>A | p.Gly439Asp | rs763045718 | 628463 | VUS | 1 |
| MYBPC3 | c.1127G>A | p.Ser376Asn | rs1595846858 | NA | NA | 1 |
| MYBPC3 | c.772G>A | p.Glu258Lys | rs397516074 | 42792 | P | 1 |
| MYBPC3 | c.152C>T | p.Ala51Val | rs746738538 | NA | NA | 1 |
| MYH6 | c.2710G>T | p.Glu904Ter | rs759822161 | NA | NA | 1 |
| MYH7 | c.5736C>T | p.Ile1912= | rs200728597 | 43086 | B | 1 |
| MYH7 | c.5203T>A | p.Ser1735Thr | rs144066768 | 181272 | VUS | 1 |
| MYH7 | c.4377G>T | p.Lys1459Asn | rs201307101 | 43012 | LB | 1 |
| MYH7 | c.4348G>A | p.Asp1450Asn | rs397516211 | 43009 | VUS | 1 |
| MYH7 | c.4212G>T | p.Val1404= | rs397516205 | 43000 | LB | 1 |
| MYH7 | c.2389G>A | p.Ala797Thr | rs3218716 | 42901 | LP/P | 1 |
| MYH7 | c.1755C>T | p.Ile585= | rs201860580 | 194465 | CON (LB/VUS) | 1 |
| MYH7 | c.1108G>A | p.Glu370Lys | NU | 858379 | VUS | 1 |
| MYH7 | c.715G>A | p.Asp239Asn | rs397516264 | 43100 | LP/P | 1 |
| MYL2 | c.374C>T | p.Thr125Met | rs375667565 | 43473 | VUS | 1 |
| MYO6 | c.2322T>C | p.Pro774= | rs947653207 | NA | NA | 1 |
| MYPN | c.1012C>T | p.Arg338Cys | rs140037748 | 201882 | VUS | 1 |
| PDLIM3 | c.334G>A | p.Gly112Arg | rs777447396 | 967683 | VUS | 1 |
| PRKAG2 | c.147C>T | p.Asp49= | rs761196275 | 696154 | LB | 1 |
| SOS1 | c.661C>G | p.Leu221Val | rs1007628403 | NA | NA | 1 |
| TNNI3 | c.557G>A | p.Arg186Gln | rs397516357 | 43395 | LP/P | 1 |
| TNNT2 | c.863G>A | p.Arg288His | rs397516484 | 43674 | VUS | 1 |
| TNNT2 | c.774C>T | p.Phe258= | rs397516481 | 43668 | LB | 1 |
| TNNT2 | c.430C>T | p.Arg144Trp | rs45525839 | 127070 | VUS | 1 |
| TNNT2 | c.341C>T | p.Ala114Val | rs727504245 | 177633 | CON (VUS/LP) | 1 |
| TPM1 | c.574G>A | p.Glu192Lys | rs199476315 | 31882 | P | 1 |
| TPM1 | c.835C>T | p.Leu279= | rs374434837 | 378751 | LB | 1 |
| TTN | c.40423A>G | p.Lys13475Glu | rs775980062 | NA | NA | 1 |
| TTN | c.32736G>A | p.Pro10912= | rs368838709 | NA | NA | 1 |
| TTN | c.29079G>A | p.Ala9693= | rs372997298 | 137775 | CON (B/LB/VUS) | 1 |
| TTN | c.22386T>A | p.Asp7462Glu | rs183482849 | 46699 | CON (B/VUS) | 1 |
| TTN | c.20395C>T | p.Arg6799Trp | rs751534449 | 809053 | VUS | 1 |
| TTN | c.15856G>A | p.Gly5286Ser | rs1409273228 | NA | NA | 1 |
| TTN | c.11959A>G | p.Ile3987Val | rs551387805 | 264496 | CON (LB/VUS) | 1 |
| VCL | c.3186G>A | p.Gln1062= | rs761534024 | 300798 | CON (LB/VUS) | 1 |