ClinVar Miner

Variants studied for Cardiovascular phenotype

Coded as:
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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 total
2956 2628 44089 38186 2973 90556

Gene and significance breakdown #

Total genes and gene combinations: 305
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 143 1018 1924 4599 408 8069
ZNF469 11 4 1528 1537 177 3254
APOB 11 0 1523 1170 84 2778
TNXB 23 0 1498 1158 99 2778
FLNC 100 26 1327 819 53 2318
AKAP9 0 0 1264 873 79 2216
ALMS1 78 8 843 1175 103 2207
RYR2 12 35 1183 884 55 2156
DSP 187 28 1195 643 38 2084
ANK2 15 0 891 804 47 1751
ALPK3 61 24 895 595 37 1607
DMD 32 14 616 818 100 1575
MYBPC3 297 95 752 424 26 1562
SCN10A 0 0 829 572 28 1429
SCN5A 84 74 572 531 29 1267
MYH6 0 0 794 431 23 1248
MYH7 51 93 615 389 24 1155
LAMA4 0 0 731 406 10 1147
LDLR 364 203 236 268 36 1107
TRPM4 0 1 693 359 23 1076
CBL 3 3 627 392 12 1037
KCNH2 140 68 379 426 23 1030
CACNA1C 14 9 363 588 62 1028
MYPN 14 0 580 365 24 983
RBM20 7 8 576 346 26 958
HCN4 2 3 505 411 19 938
ABCA1 1 4 362 392 27 786
PKP2 87 16 381 274 19 774
DSG2 24 15 399 257 24 710
KCNQ1 125 75 254 237 14 702
JUP 0 1 336 313 33 676
SOS1 12 2 359 283 14 670
ACTN2 0 3 423 220 14 659
JPH2 0 1 375 276 11 659
VCL 0 1 412 222 16 651
SOS2 0 1 377 247 18 643
JAG1 7 1 322 272 22 624
LDB3 0 0 363 233 17 613
EPHB4 5 1 251 315 24 596
SPRED1 12 2 356 209 12 591
ENG 126 33 122 284 22 587
DSC2 26 8 293 231 31 584
COL1A1 9 6 184 351 30 580
TRDN 13 2 381 159 18 572
PTPN11 46 9 246 256 6 562
COL1A2 3 9 230 291 14 547
ABCG8 6 5 313 186 17 527
PCSK9 1 4 257 233 30 525
CACNB2 0 0 316 192 14 522
CACNA2D1 0 0 268 231 18 517
LMNA 73 36 220 186 4 516
BAG3 31 10 266 173 10 489
LMF1 3 7 248 202 23 480
NEXN 0 1 334 110 4 449
DES 5 5 269 145 18 436
ACVRL1 135 79 79 127 15 435
TXNRD2 0 0 260 155 16 431
GAA 11 4 121 268 25 429
ABCC9 1 2 199 211 15 428
FKRP 18 10 221 164 10 421
TBX1 0 0 192 210 11 413
KCND3 0 2 152 237 10 401
RAF1 5 6 218 147 9 385
TBX5 6 6 211 153 8 384
PRDM5 3 3 216 142 15 379
PRKAG2 3 3 212 137 10 365
TMEM43 1 0 184 148 35 365
DOLK 3 6 204 140 1 354
ABCG5, DYNC2LI1 9 3 215 114 7 348
GATA4 0 0 154 185 7 346
NKX2-5 7 7 180 143 7 344
FOXE3, LINC01389 0 1 210 121 9 341
SNTA1 0 0 162 145 12 319
CCNH, RASA1 12 3 132 154 11 312
CYP27A1 10 3 162 115 12 302
LOX, SRFBP1 8 4 160 126 4 302
CASQ2 8 14 181 93 7 301
TBX20 4 5 190 95 4 298
TECRL 11 8 188 85 1 291
FKTN 14 4 190 73 6 286
EFEMP2 1 2 160 109 10 282
LPL 22 9 120 120 9 278
EYA4 1 0 180 80 2 263
TNNT2 14 22 159 66 6 259
ANKRD1 0 0 174 72 4 250
KCNJ5 1 0 101 133 13 248
ENG, LOC102723566 58 16 54 111 4 243
ANK2, LOC126807137 1 0 97 130 12 240
MAP2K2 1 0 104 117 9 231
SHOC2 1 1 113 106 4 225
TNNI3 11 16 143 51 6 222
CHST14 1 2 99 110 3 215
GPD1L 0 0 121 84 10 215
ANK2, LOC126807136 2 0 91 116 6 214
BRAF 4 3 71 129 7 214
LIPA 3 2 110 87 4 206
BGN 0 0 118 73 10 201
KCNJ2 6 7 57 112 19 200
LDLRAP1 6 2 100 86 6 200
TPM1 4 16 118 56 3 195
APOA5 4 10 105 72 4 193
APOE 1 1 84 101 4 191
ACTC1, GJD2-DT 2 4 97 83 2 188
CSRP3 5 3 129 49 3 188
LOC110121288, SCN10A 0 0 107 70 11 188
SCN1B 2 2 106 69 6 185
KCNJ8 0 0 89 87 7 183
GDF2 0 0 18 151 12 181
GLA, RPL36A-HNRNPH2 26 34 70 50 3 180
TTR 38 33 65 37 6 179
APOA1 0 3 89 83 2 177
LOC126861896, MYH6 0 0 105 59 7 171
LAMP2 14 3 63 78 10 168
LCAT 1 2 68 93 2 166
LOC110121269, SCN5A 9 3 72 70 7 159
LOC126861897, MHRT, MYH7 2 3 86 64 4 158
MYOZ2 0 0 105 45 7 157
TCAP 7 1 83 63 3 157
LOC114827851, MYH6 0 0 99 46 8 153
FHL1 6 2 89 48 6 151
RASA1 1 0 66 70 7 144
SCN2B 0 0 76 65 2 143
MYL3 1 7 89 42 3 141
EMD 4 2 59 73 3 140
SCN3B 0 0 78 56 6 140
FKBP14 3 1 84 47 3 138
MAT2A 0 0 51 85 2 138
CRYAB 0 0 87 46 3 136
LOC126806422, TTN 2 16 29 79 5 130
LOC126861898, MYH7 12 28 63 28 1 130
ABCG5 6 0 77 42 3 128
MYL2 1 3 81 42 2 126
RIT1 5 4 64 51 1 125
LOC126806068, RYR2 0 4 62 58 0 124
LOC101927055, TTN 0 13 37 58 15 123
KCNE1 4 3 63 47 4 121
GPIHBP1 1 0 48 62 6 116
SCN4B 0 0 65 48 3 116
ABCC9, KCNJ8 0 0 41 71 3 115
LOC126806421, TTN 0 13 28 70 4 114
ABCA1, NIPSNAP3B 0 3 50 58 2 113
TNNC1 0 1 69 43 0 113
GATAD1 0 0 68 37 1 106
LOC126806425, TTN 5 15 22 58 6 106
MAP2K1 2 0 37 62 4 105
CBL, LOC130006895 0 0 63 40 1 104
EYA4, TARID 0 2 59 42 1 104
HRAS, LRRC56 2 0 28 67 4 101
LOC126806423, TTN 1 12 31 53 4 101
LOC126806424, TTN 2 19 25 50 5 101
ALMS1, LOC126806252 3 1 47 43 3 97
LOC126806420, TTN 1 7 19 64 6 97
KRAS 4 3 9 76 3 95
FBN1 45 19 27 1 0 92
MFAP5 0 0 56 33 3 92
CAV3, OXTR 1 0 37 50 3 91
MHRT, MYH7 1 3 50 34 3 91
KCNE2, LOC105372791 0 0 41 43 4 87
GATAD1, LOC129998793 0 0 49 35 0 84
HCN4, LOC105370890, LOC126862173 1 0 37 43 0 81
KCNE3 0 0 49 28 3 80
LOC126806427, TTN 0 16 16 41 7 80
PPP1CB 3 1 14 60 2 80
LOC106780803, TNXB 0 0 70 5 2 77
LOC126806426, TTN 0 9 20 44 3 76
LOC126806433, TTN 0 4 23 47 2 76
TAFAZZIN 2 0 30 40 2 74
LOC126806067, RYR2 0 0 47 22 2 71
APOB, LOC106560211 0 2 27 36 4 68
LMF1, LOC130058141 1 0 39 22 2 64
ALPK3, LOC111718493 2 0 38 21 1 62
EPHB4, LOC126860124 1 1 29 27 4 62
CHST14, LOC130056851 0 0 41 20 0 61
APOC2, APOC4-APOC2 1 2 27 28 3 60
LOC130065680, SNTA1 0 0 25 35 0 60
CALM3 0 0 19 30 1 50
NRAP 0 5 43 0 0 48
LAMA4, LOC126859766 0 0 28 16 1 45
LOC126861356, SCN4B 0 0 24 20 1 45
APOC3 0 0 24 18 2 44
LMNA, LOC126805877 4 5 18 15 2 43
SLCO1B1 0 0 41 2 0 43
LOC114827850, MYL2 0 2 30 11 0 42
CALM2 1 1 19 17 3 41
CEP85L, PLN 2 0 28 11 0 41
EFEMP2, MUS81 0 1 25 14 1 41
NRAS 3 1 13 23 1 41
LCAT, SLC12A4 1 0 16 20 0 37
LOC129935183, TTN 0 6 6 22 3 37
AKAP9, LOC121175350 0 0 22 14 0 36
LDLRAP1, LOC129929773 2 1 21 11 0 35
LOC126805765, NEXN 0 0 29 5 1 35
LOC130059719, ZNF469 0 0 13 18 2 33
APOA5, LOC108491825 2 1 14 11 3 31
CAV3 0 0 20 9 2 31
KCNQ1, KCNQ1OT1 4 1 15 10 1 31
LOC130004109, VCL 0 0 15 16 0 31
FHOD3 0 2 28 0 0 30
LOC126861443, MFAP5 0 0 23 6 0 29
LOC130066960, TXNRD2 0 0 20 7 1 28
AARS2 1 3 23 0 0 27
CALM1 0 1 7 18 1 27
MYOM1 0 0 8 3 16 27
LOC129933535, SOS1 0 0 13 12 1 26
LOC130059718, ZNF469 0 0 15 10 1 26
APOB, APOB3'MAR 0 0 14 11 0 25
DSG2, LOC130062340 0 0 12 13 0 25
LMNA, LOC129931597 2 2 9 11 1 25
MYH11 0 0 10 6 9 25
COL1A1, LOC126862586 0 1 7 16 0 24
LOC129999660, PRKAG2 0 0 13 10 0 23
MAP2K1, SNAPC5 0 0 7 15 0 22
TGFBR2 6 2 9 2 3 22
ABCG5, ABCG8 0 0 8 11 2 21
DSC2, DSCAS 0 1 8 10 2 21
COL3A1 4 8 8 0 0 20
LOC126861897, MYH7 0 1 15 4 0 20
COMT, TXNRD2 0 0 14 5 0 19
EPHB4, SLC12A9 0 0 10 6 1 17
FLNC, LOC129999273 0 0 5 12 0 17
FPGT-TNNI3K, TNNI3K 1 0 16 0 0 17
LOC130065679, SNTA1 0 0 12 5 0 17
ABCA1, LOC121331340 0 0 7 9 0 16
FBN2 0 0 13 3 0 16
AKAP9, LOC129998788 0 0 8 6 1 15
LOC130055588, SOS2 0 0 10 5 0 15
MYH11, NDE1 0 0 3 2 10 15
SMAD3 0 5 10 0 0 15
AKAP9, LOC129998789 0 0 12 1 1 14
BRAF, LOC126860202 0 0 7 7 0 14
EYA4, LOC126859796, TARID 0 0 8 6 0 14
LOC129935182, TTN 0 2 5 7 0 14
LOC130063193, MAP2K2 0 0 5 9 0 14
TRIM63 1 3 10 0 0 14
NEBL 0 0 8 0 5 13
ACTA2 3 1 8 0 0 12
LOC129935184, TTN 0 0 4 8 1 12
PPP1R13L 0 0 12 0 0 12
DNASE1L1, LOC130068869, TAFAZZIN 0 0 5 6 0 11
LDLR, MIR6886 3 2 0 5 1 11
CALR3 0 0 2 2 6 10
COL5A1 1 1 7 0 0 9
LDB3, LOC110121486 1 0 4 1 3 9
LOC132089829, MYPN 0 0 7 2 0 9
GPD1L, LOC129936414 0 0 5 3 0 8
HCN4, LOC105370890 0 0 5 2 0 7
LOC126806430, TTN 0 0 3 2 2 7
LOC129935185, TTN 0 1 1 4 1 7
LOC129935186, TTN 0 0 4 3 0 7
LOC130065678, SNTA1 0 0 4 2 1 7
CALM1, LOC126862021 1 0 1 4 0 6
CBS 0 0 4 2 0 6
LOC126806428, TTN 0 0 1 2 3 6
SLC2A10 2 0 4 0 0 6
TGFBR1 1 2 2 1 0 6
LOC126859654, TNXB 1 0 4 0 0 5
MYLK 0 0 4 0 1 5
TGFB2 0 0 4 1 0 5
CDH2 0 0 4 0 0 4
MED12 0 0 2 0 2 4
PDLIM3 0 0 3 0 1 4
CCDC30, PPCS 0 0 3 0 0 3
COL5A2 0 0 3 0 0 3
CYP21A2, TNXB 0 0 2 1 0 3
FLNA 0 1 2 0 0 3
LOC130006838, SCN4B 0 0 2 1 0 3
PLOD1 0 0 3 0 0 3
SGO1 1 0 2 0 0 3
SLC4A3 0 0 3 0 0 3
COL5A1, LOC101448202 0 0 2 0 0 2
ELN 0 0 2 0 0 2
FLNA, LOC107988032 0 0 2 0 0 2
HABP2, NRAP 0 0 2 0 0 2
HRC, TRPM4 0 0 0 0 2 2
ILK, TAF10 0 0 2 0 0 2
KCNE3, LIPT2 0 0 0 2 0 2
LDB3, LOC130004243 0 0 2 0 0 2
LOC126806429, TTN 0 0 0 0 2 2
LOC126806431, TTN 0 0 0 1 1 2
LOC130057222, TPM1 0 0 2 0 0 2
PPA2 1 1 0 0 0 2
PRKG1 0 0 2 0 0 2
TMPO 0 0 1 1 0 2
AKAP9, CYP51A1 0 0 0 0 1 1
CCDC30, LOC129930344, PPCS 0 0 1 0 0 1
DNASE1L1, TAFAZZIN 0 0 0 1 0 1
DSC2, DSG2 0 0 1 1 0 1
FBN1, LOC113939944 1 0 0 0 0 1
FHOD3, LOC130062385 0 0 1 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 1 0 0 0 0 1
FXN 0 0 0 1 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GNB5 0 0 1 0 0 1
GNB5, LOC130057083 0 1 0 0 0 1
LOC126806792, MYLK 0 0 1 0 0 1
LOC126807246, PDLIM3 0 0 0 0 1 1
LOC130008520, TMPO 0 0 0 1 0 1
MIR208B, MYH7 0 1 1 0 0 1
MKRN2, RAF1 0 0 0 0 1 1
NOTCH1 0 0 1 0 0 1
SGCD 0 0 0 0 1 1
SKI 0 0 1 0 0 1
SMAD2 0 1 0 0 0 1
SMAD4 0 0 1 0 0 1
TGFB3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 2766 2337 43283 38186 2973 89538
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 301 317 1301 0 0 1919
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 8 0 0 0 26
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 3 0 0 3
Institute of Human Genetics, Medical University Innsbruck 2 0 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1

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