ClinVar Miner

Variants studied for cardiovascular disease

Included ClinVar conditions (1455):
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects association protective risk factor other not provided total
14020 7069 56707 20569 10447 1 6 4 48 10 1630 101164

Gene and significance breakdown #

Total genes and gene combinations: 1343
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association protective risk factor other not provided total
TTN 104 866 5149 2332 875 0 0 0 0 0 9 8105
NF1 1405 330 2220 656 86 0 0 0 1 0 4 4548
ATM 588 243 2294 544 93 0 0 0 0 0 0 3562
FBN1 863 792 1241 549 112 0 0 0 0 0 5 3220
RYR2 32 66 1735 912 168 0 0 0 0 0 2 2641
DMD 915 110 793 277 230 0 0 0 0 0 5 2223
ATM, C11orf65 338 171 1429 298 64 0 0 0 0 0 2 2193
DSP 136 84 1127 481 87 0 0 0 0 0 0 1742
MYBPC3 375 196 855 428 88 0 0 0 0 0 5 1671
SCN5A 147 91 922 461 92 0 0 0 0 0 393 1662
MYH7 133 228 968 382 52 0 0 0 0 0 2 1523
KCNH2 200 80 614 340 52 0 0 0 1 0 363 1386
FLNC 88 25 911 277 90 0 0 0 0 0 0 1384
ALMS1 142 137 741 298 95 0 0 0 0 0 2 1380
COL3A1 461 100 466 284 79 0 0 0 1 0 8 1291
SYNE1 23 5 792 252 344 0 0 0 0 0 0 1278
SYNE2 1 0 687 199 326 0 0 0 0 0 0 1092
SDHA 60 27 656 214 53 0 0 0 0 0 1 969
GAA 195 195 488 177 56 0 0 0 0 3 1 940
CACNA1C 10 9 451 279 214 0 0 0 0 0 15 905
KCNQ1 184 81 325 205 63 0 0 0 0 0 286 881
PKP2 95 66 478 216 53 0 0 0 0 0 0 796
ANK2 4 8 569 197 91 0 0 0 0 0 19 790
CHD7 226 56 367 87 74 0 0 0 0 0 1 778
DSG2 32 27 521 225 52 0 0 0 1 0 0 754
AGL 125 110 433 89 44 0 0 0 0 0 1 738
MYH11 10 3 425 303 63 0 0 0 0 0 3 720
BMPR2 438 50 141 34 61 0 0 0 0 0 0 702
MYLK 11 9 443 184 76 0 0 0 0 0 1 641
ACADVL 160 129 349 86 30 0 0 0 0 0 0 630
FLNA 60 30 302 114 122 0 0 0 0 0 3 621
DSC2 15 17 425 189 31 0 0 0 0 0 0 606
RELN 12 1 449 113 66 0 0 0 0 0 1 598
MYH11, NDE1 6 4 379 237 58 0 0 0 0 0 0 595
MYH6 9 3 427 163 73 0 0 0 1 0 0 584
WNK1 10 2 396 84 109 0 0 0 0 0 0 570
RBM20 11 12 434 127 41 0 0 0 0 0 0 553
LOC107303340, VHL 112 44 303 48 47 0 0 0 0 0 0 529
SDHB 118 43 301 58 15 0 0 0 0 0 2 510
AKAP9 1 4 370 127 69 0 0 0 0 0 0 509
PCNT 33 5 311 41 100 0 0 0 0 0 1 481
EVC 45 54 218 103 81 0 0 0 0 0 0 457
SMAD3 48 26 251 138 19 0 0 0 1 0 1 456
HCN4 11 1 304 95 59 0 0 0 0 0 0 453
MRE11 26 16 342 62 34 0 0 0 0 0 1 449
TGFBR2 30 27 272 134 24 0 0 0 0 0 2 448
ACTN2 8 3 340 114 38 0 0 0 0 0 1 442
LMNA 63 64 194 134 26 0 0 0 0 0 3 437
PRKAG2 16 8 293 156 29 0 0 0 0 0 0 436
GATA2 19 9 292 81 30 0 0 0 0 0 0 423
MYPN 9 5 300 81 51 0 0 0 0 0 0 413
SLC22A5 83 75 205 48 23 0 0 0 0 0 104 404
CDKN1C 37 5 207 122 21 0 0 0 0 0 0 390
TGFBR1 22 15 256 95 23 0 0 0 0 0 0 388
ACVRL1 151 43 112 31 67 0 0 0 0 0 2 384
ABCC6 357 11 5 5 21 0 0 0 0 0 2 383
TMEM43 4 1 269 121 24 0 0 0 0 0 0 375
MYOM1 0 1 240 81 51 0 0 0 0 0 0 371
VHL 89 30 211 62 8 0 0 0 0 0 0 371
SCN10A 0 1 268 69 33 0 0 0 0 0 0 367
EPG5 40 15 217 52 46 0 0 0 0 0 0 362
GLA, RPL36A-HNRNPH2 153 83 103 50 13 0 0 0 0 1 3 362
JUP 11 6 289 73 31 0 0 0 0 0 0 360
ENG 123 23 155 53 32 0 0 0 0 0 0 356
SOS1 27 17 234 69 46 0 0 0 0 0 2 356
VCL 3 9 289 62 35 0 0 0 0 0 1 356
RET 55 19 193 70 60 0 0 0 0 0 1 352
EVC2 60 51 121 99 72 0 0 0 0 0 0 351
TNNT2 33 46 211 89 19 0 0 0 0 0 0 346
LAMA4 2 0 226 83 58 0 0 0 0 0 0 342
PRDM16 5 0 206 91 44 0 0 0 0 0 0 341
TMEM127 20 25 225 49 32 0 0 0 0 0 0 335
ABCC9 8 6 244 84 36 0 0 0 0 0 1 334
ATP1A2 17 6 202 67 62 0 0 0 0 0 0 332
BAG3 38 14 224 47 25 0 0 0 0 0 0 321
SDHC 25 16 217 40 30 0 0 0 0 0 0 320
DES 46 23 207 48 26 0 0 0 0 0 0 318
ACTC1, LOC101928174 11 12 206 106 15 0 0 0 0 0 0 311
JAG1 81 14 139 58 32 0 0 0 0 0 0 306
TPM1 12 34 166 106 14 0 0 0 0 0 5 301
MHRT, MYH7 8 16 194 92 14 0 0 0 0 0 0 294
SDHD 59 16 184 36 10 0 0 0 0 0 1 294
TRPM4 4 1 236 53 36 0 0 0 0 0 0 290
NSD1 82 25 119 30 31 0 0 0 0 1 0 287
PTPN11 89 42 119 42 51 0 0 0 0 0 6 285
TNNI3 31 31 178 69 9 0 0 0 1 0 0 280
SPRED1 44 7 150 38 30 0 0 0 0 0 0 264
KCNJ2 34 9 156 27 45 0 0 0 0 0 48 263
TRDN 19 7 173 44 21 0 0 0 0 0 0 263
ACVR2B 2 0 164 25 77 0 0 0 0 0 0 260
LAMP2 42 17 129 47 61 0 0 0 0 0 0 249
RAF1 28 26 168 51 37 0 0 0 0 0 2 249
NOTCH3 29 14 90 42 63 0 0 0 0 0 18 239
TBX5 92 20 70 15 53 0 0 0 0 0 0 239
SLC2A10 23 6 160 44 32 0 0 0 0 0 1 238
ELN 61 16 87 48 40 0 0 0 0 0 1 237
NEBL 0 1 152 44 30 0 0 0 0 0 0 225
CCBE1 6 0 152 20 47 0 0 0 0 0 5 224
BRAF 48 72 89 39 27 0 0 0 0 0 11 218
ENPP1 14 5 111 21 66 0 0 0 0 0 0 212
TGFB2 25 13 128 26 34 0 0 0 0 0 0 210
SCN1A, SCN9A 13 0 82 44 104 0 0 0 0 0 0 208
CBL 10 3 138 36 22 0 0 0 0 0 0 205
COL4A1 26 10 65 43 90 0 0 0 2 0 1 205
CTNNA3 2 0 155 16 30 0 0 0 0 0 0 201
F5 0 0 144 14 40 0 0 0 0 0 0 198
COL4A2 5 3 61 21 107 0 0 0 3 0 0 195
DM1, DMPK, LOC107075317, LOC109461477 176 0 0 0 14 0 0 0 0 0 0 190
NOTCH1 8 8 73 45 58 0 0 0 0 0 2 190
KRIT1 79 11 58 28 16 0 0 0 0 0 3 187
NEXN 5 5 147 30 19 0 0 0 0 0 0 187
GATA4 41 3 95 31 33 0 0 0 0 0 0 185
MYO6 10 0 99 25 50 0 0 0 0 0 0 183
ACTA2 11 7 123 52 6 0 0 0 0 0 0 180
CACNB2, NSUN6 1 0 125 53 19 0 0 0 0 0 0 177
CCNH, RASA1 36 11 85 40 17 0 0 0 0 0 0 174
HRAS, LRRC56 18 20 94 46 12 0 0 0 0 0 0 174
SGCA 32 39 78 31 6 0 0 0 0 0 0 172
MYL2 7 14 105 51 13 0 0 0 0 0 2 171
LOC110121269, SCN5A 14 7 107 59 11 0 0 0 1 0 20 168
SDHAF2 5 3 123 26 13 0 0 0 0 0 0 167
KCNE1 10 7 99 46 31 0 0 0 1 0 25 166
TGFB3 16 11 111 33 8 0 0 0 0 0 0 165
CASQ2 12 8 119 23 19 0 0 0 0 0 0 164
LOC101927870, RELN 0 1 118 26 21 0 0 0 0 0 0 160
SCN1B 5 3 97 32 38 0 0 0 0 0 0 160
ADAMTS13 29 10 85 26 15 0 0 0 0 0 0 159
ETFDH 33 26 77 27 10 0 0 0 0 0 0 159
MYL3 5 7 106 48 13 0 0 0 0 0 3 159
GBE1 42 12 61 37 24 0 0 0 0 0 2 157
JPH2 3 2 108 32 21 0 0 0 0 0 0 156
KCNA5 6 0 115 33 21 0 0 0 0 0 0 155
KCNJ5 3 1 97 35 25 0 0 0 0 0 0 154
PROS1 23 9 102 16 16 0 0 0 1 0 0 154
TTR 54 15 68 17 15 0 0 0 0 0 2 154
CSRP3 7 13 119 23 8 0 0 0 0 0 1 153
GYS1 5 5 118 10 17 0 0 0 0 0 2 152
KIF1B 1 0 91 52 8 0 0 0 0 0 0 152
MYLK2 0 1 112 33 23 0 0 0 0 0 0 152
OAT 46 39 55 12 13 0 0 0 0 0 0 149
SOS2 6 5 84 32 23 0 0 0 0 0 1 147
KLHL3 30 1 70 2 43 0 0 0 0 0 0 146
ENG, LOC102723566 64 11 48 24 10 0 0 0 0 0 0 144
DOLK 7 1 112 28 9 0 0 0 0 0 0 143
KRAS 23 19 60 43 5 0 0 0 0 0 3 142
PDGFRA 0 0 74 16 52 0 0 0 0 0 0 141
MAX 9 1 83 27 24 0 0 0 0 0 0 140
DTNA 2 0 73 49 21 0 0 0 0 0 0 138
TXNRD2 0 0 102 20 16 0 0 0 0 0 0 137
SNTA1 2 2 100 39 21 0 0 0 0 0 0 136
SMAD9 3 1 63 45 27 0 0 0 0 0 0 134
SUN1 0 0 91 19 24 0 0 0 0 0 0 134
MED13L 36 11 41 25 20 0 0 0 0 0 1 132
SMAD6 6 1 92 22 11 0 0 0 0 0 0 130
MAP2K2 9 8 61 38 29 0 0 0 0 0 1 129
NKX2-5 38 5 65 17 13 0 0 0 0 0 0 129
SGCD 12 9 74 28 11 0 0 0 0 0 0 129
EMD 36 3 58 26 8 0 0 0 0 0 0 126
PROC 37 11 62 17 13 0 0 0 0 0 1 125
CUL3 13 1 66 1 43 0 0 0 0 0 0 124
FZD4, PRSS23 8 1 65 5 45 0 0 0 0 0 0 124
FKTN 9 1 101 14 5 0 0 0 0 0 0 123
GPD1L 4 0 71 41 11 0 0 0 0 0 0 122
PSEN1 1 2 93 21 5 0 0 0 0 0 0 122
SERPINC1 54 24 43 9 7 0 0 0 0 0 0 121
SGCB 29 23 57 16 4 0 0 0 0 0 0 120
NRAS 8 14 71 23 9 0 0 0 0 0 1 119
TMPO 0 0 80 27 19 0 0 0 0 0 0 119
IDUA 38 41 38 5 0 0 0 0 0 0 0 118
MPI 11 23 56 26 13 0 0 0 0 0 1 118
SCN3B 5 1 75 36 5 0 0 0 0 0 0 118
TBX1 9 2 73 19 17 0 0 0 0 0 0 117
B3GLCT 6 0 71 15 34 0 0 0 0 0 0 116
FHL1 24 6 63 14 10 0 0 0 0 0 1 116
ADA2 26 6 72 14 5 0 0 0 0 0 0 115
ELAC2 8 2 71 21 13 0 0 0 0 0 0 113
SGCG 24 22 52 14 6 0 0 0 0 0 0 113
TAZ 25 18 53 21 8 0 0 0 0 0 0 113
MPL 23 5 37 47 14 0 0 0 1 0 0 112
SCN4B 3 0 73 34 4 0 0 0 0 0 0 112
LDB3 5 0 71 22 23 0 0 0 0 0 0 111
EFEMP2 13 4 64 28 12 0 0 0 0 0 0 110
LOC101927055, TTN 0 4 65 39 17 0 0 0 0 0 0 109
EYA4 1 0 83 25 8 0 0 0 0 0 0 108
WNK4 8 0 35 15 50 0 0 0 0 0 0 107
GAREM2, HADHA 11 26 49 19 12 0 0 0 0 0 0 106
GATA6 8 2 59 25 15 0 0 0 0 0 0 104
SHOC2 3 1 61 16 28 0 0 0 0 0 1 104
TFAP2B 11 1 39 31 23 0 0 0 0 0 0 104
EYA4, TARID 1 0 78 13 11 0 0 0 0 0 0 101
RBCK1 14 1 72 11 3 0 0 0 0 0 0 101
TEK 4 0 32 10 55 0 0 0 0 0 0 101
PRKG1 1 0 52 30 19 0 0 0 0 0 2 100
SERPING1 46 8 24 9 14 0 0 0 0 0 0 100
SUN2 0 0 52 30 18 0 0 0 0 0 0 100
TP53 7 91 4 0 0 0 0 0 0 0 0 100
HADHA 16 29 40 24 4 0 0 0 0 0 0 98
SEMA3E 1 0 69 15 13 0 0 0 0 0 0 98
TCAP 6 3 77 19 4 0 0 0 0 0 1 98
TSHR 10 0 32 6 48 0 0 0 0 0 0 96
ATRIP, ATRIP-TREX1, TREX1 12 5 53 17 14 0 0 0 0 0 0 95
MANBA 13 1 52 12 23 0 0 0 0 0 1 95
PDLIM3 0 0 64 14 16 0 0 0 0 0 1 94
PEPD 15 2 57 9 12 0 0 0 0 0 0 94
ACAD8 8 2 67 8 15 0 0 0 0 0 1 93
CAV3 6 6 61 25 13 0 0 0 0 0 0 92
CYP11B2, LOC106799834 0 0 38 13 40 0 0 0 0 0 0 91
TNNC1 7 2 67 19 5 0 0 0 0 0 0 90
SP110 4 0 62 12 17 0 0 0 0 0 0 89
CFH 4 0 44 21 19 0 0 0 0 0 0 88
CACNA2D1 0 0 50 14 24 0 0 0 0 0 0 87
HADHB 11 8 44 11 18 0 0 0 0 0 0 87
PRPH2 6 0 37 6 38 0 0 0 0 0 0 87
CALR3 1 0 56 17 17 0 0 0 0 0 0 85
LOC102724058, SCN1A 6 1 50 12 16 0 0 0 0 0 4 85
MYOZ2 2 0 54 23 10 0 0 0 0 0 0 83
FOXF1 23 5 19 22 14 0 0 0 0 0 0 82
GBA, LOC106627981 51 31 5 0 0 0 0 0 1 0 1 81
IDS, LOC106050102 38 11 6 4 25 0 0 0 0 0 0 81
MTO1 9 8 51 10 6 0 0 0 0 0 0 81
PGM1 15 0 45 16 15 0 0 0 0 0 1 81
CYP11B1 1 0 44 3 32 0 0 0 0 0 0 80
COG1 4 0 55 16 14 0 0 0 0 0 0 79
COG7 3 3 54 18 12 0 0 0 0 0 0 79
STING1 4 0 52 9 10 0 0 0 0 0 0 75
IDS 39 5 10 6 14 0 0 0 0 0 0 74
KCNE3 1 0 54 20 2 0 0 0 0 0 0 74
SCNN1G 4 1 24 8 37 0 0 0 0 0 0 74
SLC25A20 18 3 48 4 3 0 0 0 0 0 0 74
NODAL 5 6 40 14 13 0 0 0 0 0 1 73
SCNN1B 7 0 21 12 33 0 0 0 0 0 0 72
CAVIN1 8 0 36 14 13 0 0 0 0 0 0 71
FUCA1 17 3 37 11 10 0 0 0 0 0 0 71
GJA5 7 0 56 8 2 0 0 0 0 0 0 71
ANKRD1 0 1 42 21 18 0 0 0 0 0 0 70
LIMS2 1 0 49 9 11 0 0 0 0 0 0 70
MGAT2 9 0 56 6 4 0 0 0 0 0 0 70
LOC114827851, MYH6 0 0 50 16 10 0 0 0 0 0 0 69
MAP2K1 17 11 23 22 11 0 0 0 0 0 3 69
CCM2 31 5 7 4 14 0 0 0 0 0 8 67
CRYAB 4 4 52 10 4 0 0 0 0 0 0 67
ACAD9 13 4 40 2 10 0 0 0 0 0 0 66
EIF2AK4 30 16 1 4 15 0 0 0 0 0 0 65
ETFA 12 3 36 14 5 0 0 0 0 0 0 65
GJA1 2 0 52 5 6 0 0 0 0 0 0 64
APTX 13 2 31 4 14 0 0 0 0 0 0 63
SARS2 2 0 51 3 5 0 0 0 0 0 2 63
ZFPM2 8 0 25 9 27 0 0 0 0 0 0 63
ZIC3 18 2 31 10 6 0 0 0 0 0 0 63
CEP85L, PLN 7 2 51 6 1 0 0 0 0 0 0 62
COQ4 13 5 33 7 6 0 0 0 0 0 0 61
PSEN2 1 0 38 14 10 0 0 0 0 0 0 61
FHL2 0 0 39 12 12 0 0 0 0 0 0 60
SLC6A2 1 0 36 22 0 0 0 0 0 0 0 59
AGK 11 4 33 6 7 0 0 0 0 0 0 57
F12, SLC34A1 5 1 26 20 22 0 0 0 0 0 0 55
GLMN 6 5 13 7 25 0 0 0 0 0 1 55
ILK, TAF10 0 0 41 10 5 0 0 0 0 0 0 55
PDCD10 24 3 17 1 2 0 0 0 0 0 9 55
SP110, SP140 7 1 30 7 12 0 0 0 0 0 1 55
FBN1, LOC113939944 18 12 16 10 1 0 0 0 0 0 0 54
IDUA, SLC26A1 6 6 10 32 2 0 0 0 0 1 0 54
TSPAN12 12 4 23 3 13 0 0 0 0 0 0 54
MT-TT 1 0 6 10 36 0 0 0 0 0 0 53
SCN1A 6 2 26 11 8 0 0 0 0 0 0 53
MAP3K1 6 4 9 6 27 0 0 0 0 0 0 52
KCNQ1, KCNQ1OT1 7 2 26 18 8 0 0 0 0 0 1 51
LOC111811965, NF1 6 4 36 5 0 0 0 0 0 0 0 51
RASA1 4 0 34 11 8 0 0 0 0 0 0 51
HOXA1 4 0 40 4 2 0 0 0 0 0 0 50
KCNE2 4 2 37 15 7 0 0 0 1 0 12 49
RRAS 0 0 30 15 4 0 0 0 0 0 0 49
CACNA1A 15 2 13 0 12 0 0 0 0 0 16 48
CACNB2 1 0 32 13 7 0 0 0 0 0 1 47
SLMAP 0 0 42 2 3 0 0 0 0 0 0 47
SMAD4 0 0 33 10 4 0 0 0 0 0 0 47
INSL6, JAK2 2 0 37 3 3 0 0 0 0 0 1 46
LOC110121288, SCN10A 0 0 32 10 4 0 0 0 0 0 0 46
LOC114827850, MYL2 4 6 28 11 6 0 0 0 0 0 3 46
CHST14 12 2 22 5 3 0 0 0 0 0 3 45
MYL4 1 0 29 9 6 0 0 0 0 0 0 45
SNORD118, TMEM107 44 0 3 0 0 0 0 0 0 0 0 45
CYP11B1, LOC106799833 1 1 12 7 22 0 0 0 0 0 0 43
RNF213 2 8 32 0 1 0 0 0 3 0 0 43
KCNK3 6 2 25 7 2 0 0 0 0 0 0 42
RIT1 24 6 14 4 1 0 0 0 0 0 1 42
AGK, DENND11 1 2 29 4 5 0 0 0 0 0 0 41
DSC2, DSCAS 2 2 30 8 2 0 0 0 0 0 0 41
GDF2 3 0 25 7 7 0 0 0 0 0 0 41
PIGL 4 0 32 2 5 0 0 0 0 0 0 41
​intergenic 16 8 12 0 1 0 0 0 0 0 4 40
ESR1, SYNE1 0 0 28 1 12 0 0 0 0 0 0 40
NR5A1 21 9 7 1 4 0 0 0 0 0 0 40
CERS1, GDF1 8 3 17 8 5 0 0 0 0 0 0 39
GATAD1 1 0 27 8 4 0 0 0 0 0 0 39
COQ9 2 1 22 7 7 0 0 0 0 0 0 38
HBB, LOC106099062, LOC107133510 30 1 7 0 2 0 0 0 0 0 1 38
THPO 4 0 23 6 5 0 0 0 0 0 0 38
CHM 30 3 2 0 2 0 0 0 0 0 0 36
KIF11 25 5 3 1 1 0 0 0 0 0 0 35
LOC114827827, NPPA 2 0 24 8 2 0 0 0 0 0 0 35
SCN9A 6 0 18 6 12 0 0 0 0 0 0 35
SLC25A3 1 0 26 2 6 0 0 0 0 0 0 35
EPHB4 12 10 16 0 0 0 0 0 0 0 0 34
MT-TH 1 1 12 4 15 0 0 0 0 0 0 33