ClinVar Miner

Variants from All of Us Research Program, National Institutes of Health

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1274 580 25098 12539 926 40417

Gene and significance breakdown #

Total genes and gene combinations: 98
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR1 16 21 2229 911 49 3226
RYR2 1 0 1575 831 78 2485
BRCA2 246 17 1282 611 50 2206
APC 36 10 1293 504 14 1857
DSP 29 47 1089 403 21 1589
TSC2 4 2 846 538 104 1494
FBN1 12 24 906 495 36 1473
MSH6 90 16 853 385 7 1351
MYBPC3 69 21 723 352 18 1183
SCN5A 27 26 697 400 25 1175
CACNA1S 1 1 805 319 37 1163
ATP7B 114 59 607 297 14 1091
BRCA1 116 11 474 307 32 940
MYH7 13 24 540 334 24 935
MYH11 0 1 496 302 33 832
COL3A1 8 16 515 280 12 831
MSH2 18 8 580 207 8 821
LDLR 88 70 376 220 5 759
KCNH2 16 10 390 259 21 696
RET 12 7 440 213 4 676
DSG2 2 1 451 188 19 661
PKP2 30 8 408 201 14 661
PCSK9 2 1 412 198 20 633
PMS2 51 15 358 179 10 613
TSC1 3 1 369 169 44 586
DSC2 0 0 406 153 8 567
MLH1 27 8 358 158 8 559
MYH11, NDE1 0 0 317 181 23 521
RB1 0 0 312 163 33 508
MUTYH 54 30 288 127 7 506
KCNQ1 40 25 230 150 14 459
LMNA 5 6 244 119 6 380
STK11 1 0 191 175 2 369
TMEM43 1 0 253 88 10 352
PRKAG2 0 1 200 124 9 334
BMPR1A 1 1 210 103 5 320
TGFBR2 1 2 187 105 6 301
MEN1 7 2 172 101 2 284
NF2 0 3 175 80 5 263
TP53 14 10 146 90 2 262
TNNT2 6 6 146 74 3 235
SMAD4 2 0 113 108 0 223
SMAD3 1 5 111 96 5 218
TGFBR1 1 1 128 73 3 206
BRCA1, LOC126862571 28 0 93 55 6 182
TNNI3 2 6 108 58 4 178
MYL3 0 2 114 41 10 167
PTEN 10 1 90 66 0 167
SDHB 18 6 106 30 1 161
LOC126861897, MHRT, MYH7 1 1 106 43 3 154
ACTA2 2 0 74 73 3 152
LOC110121269, SCN5A 1 2 100 47 2 152
LOC126806068, RYR2 0 0 98 50 4 152
TPM1 1 3 67 72 5 148
LOC107982234, WT1 0 0 97 48 1 146
ACTC1, GJD2-DT 0 0 46 85 2 133
WT1 0 2 76 52 3 133
VHL 0 1 91 34 0 126
MYL2 0 0 80 36 3 119
MHRT, MYH7 0 1 75 31 1 108
GLA, RPL36A-HNRNPH2 10 5 72 20 0 107
SDHC 4 8 61 27 0 100
OTC 3 1 56 35 1 96
SDHAF2 5 6 70 14 1 96
SDHD 6 1 64 21 0 92
LOC126861898, MYH7 3 8 42 29 4 86
LOC107303340, VHL 2 1 47 33 0 83
LOC126806067, RYR2 0 0 52 16 5 73
LOC126862902, RYR1 0 0 44 16 1 61
LOC130062899, STK11 0 0 24 18 1 43
LOC114827850, MYL2 1 1 18 11 1 32
FBN1, LOC113939944 0 0 20 8 1 29
KCNQ1, KCNQ1OT1 1 1 15 10 1 28
FBN1, LOC126862124 0 0 18 6 1 25
LOC129391106, RYR1 0 0 15 9 0 24
DSG2, LOC130062340 0 0 17 5 1 23
DSC2, DSCAS 0 0 14 7 1 22
LMNA, LOC126805877 2 0 15 4 1 22
LOC126861897, MYH7 0 0 19 3 0 22
COL3A1, LOC126806446 0 1 9 10 1 21
LDLR, MIR6886 2 2 4 7 0 15
LOC126861339, SDHD 0 0 7 8 0 15
MUTYH, TOE1 0 1 11 3 0 15
LOC130057352, SMAD3 1 1 6 5 1 14
FBN1, LOC130057019 1 0 8 2 2 13
LMNA, LOC129931597 0 1 9 3 0 13
LOC106736614, RET 0 0 9 4 0 13
LOC129933707, MSH6 1 0 8 4 0 13
LOC129929542, SDHB 1 0 6 2 0 9
LOC130064357, RYR1 0 0 7 0 0 7
PKD1, TSC2 0 0 0 3 4 7
APC, LOC129994371 0 0 4 0 0 4
APOB 2 0 1 0 0 3
LOC130058210, TSC2 0 0 3 0 0 3
COL3A1, MIR3606 0 0 0 2 0 2
LOC130003710, RET 0 0 0 2 0 2
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
LOC129929541, SDHB 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Lynch syndrome 187 47 2157 933 33 3357
Malignant hyperthermia, susceptibility to, 1 16 21 2295 936 50 3318
Catecholaminergic polymorphic ventricular tachycardia 1 0 1725 897 87 2710
Hypertrophic cardiomyopathy 92 67 1366 779 52 2356
Tuberous sclerosis syndrome 7 3 1218 710 152 2090
Classic or attenuated familial adenomatous polyposis 36 10 1297 504 14 1861
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 29 47 1089 403 21 1589
Marfan syndrome 13 24 952 511 40 1540
Familial thoracic aortic aneurysm and aortic dissection 2 1 887 556 59 1505
Cardiomyopathy 0 0 912 514 35 1461
Breast-ovarian cancer, familial, susceptibility to, 2 133 9 824 442 30 1438
Arrhythmogenic right ventricular cardiomyopathy 32 9 876 394 34 1345
Cardiac arrhythmia 0 0 789 447 27 1263
Long QT syndrome 57 36 635 419 36 1183
Malignant hyperthermia, susceptibility to, 5 1 1 805 319 37 1163
Wilson disease 114 59 607 297 14 1091
Ehlers-Danlos syndrome, type 4 8 17 524 292 13 854
Hypercholesterolemia, familial, 1 90 72 380 227 5 774
BRCA2-related cancer predisposition 113 8 458 169 20 768
Breast-ovarian cancer, familial, susceptibility to, 1 80 7 378 261 25 751
Multiple endocrine neoplasia, type 2 12 7 449 219 4 691
Hypercholesterolemia, autosomal dominant, 3 2 1 412 198 20 633
Familial isolated arrhythmogenic right ventricular dysplasia 0 0 420 160 9 589
Familial adenomatous polyposis 2 54 31 299 130 7 521
Retinoblastoma 0 0 312 163 33 508
Hereditary pheochromocytoma and paraganglioma 34 21 315 102 2 474
Primary dilated cardiomyopathy 11 14 274 126 7 432
Peutz-Jeghers syndrome 1 0 215 193 3 412
BRCA1-related cancer predisposition 64 4 189 101 13 371
Arrhythmogenic right ventricular dysplasia 5 1 0 253 88 10 352
Juvenile polyposis syndrome 1 1 210 103 5 320
Loeys-Dietz syndrome 2 1 2 187 105 6 301
Multiple endocrine neoplasia, type 1 7 2 172 101 2 284
Wilms tumor 1 0 2 173 100 4 279
Neurofibromatosis, type 2 0 3 175 80 5 263
Li-Fraumeni syndrome 14 10 146 90 2 262
Aneurysm-osteoarthritis syndrome 2 6 117 101 6 232
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2 0 113 108 0 223
Von Hippel-Lindau syndrome 2 2 138 67 0 209
Loeys-Dietz syndrome 1 1 128 73 3 206
PTEN hamartoma tumor syndrome 10 1 90 66 0 167
Fabry disease 11 5 72 20 0 108
Ornithine carbamoyltransferase deficiency 3 1 56 35 1 96
Brugada syndrome 24 24 4 0 0 52
Congenital long QT syndrome 4 4 4 0 0 12
Hypercholesterolemia, autosomal dominant, type B 2 0 1 0 0 3

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