ClinVar Miner

Variants studied for congenital abnormality

Included ClinVar conditions (2886):
Minimum submission review status: Collection method:
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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 drug response risk factor other not provided total
33172 13931 104224 36608 18781 15 2 2 41 12 510 197344

Gene and significance breakdown #

Total genes and gene combinations: 2758
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response risk factor other not provided total
NF1 1887 478 2687 1037 105 0 0 0 1 0 4 5946
ATM 736 276 2686 856 97 0 0 0 0 0 0 4413
MSH6 515 57 2145 712 52 0 0 0 0 0 0 3481
FBN1 987 787 927 328 111 0 0 0 0 0 5 2874
ATM, C11orf65 417 184 1666 460 67 0 0 0 0 0 2 2667
MSH2 454 95 1438 417 50 0 0 0 0 0 2 2455
RECQL4 142 48 1583 555 87 0 0 0 0 0 0 2390
PLEC 15 4 1424 657 178 0 0 0 0 0 1 2279
BRIP1 240 106 1518 414 51 0 0 0 0 0 0 2253
PMS2 273 50 1217 402 56 0 0 0 0 0 0 1997
VPS13B 238 322 952 513 93 0 0 0 0 0 4 1919
ALMS1 237 155 892 564 97 0 0 0 0 0 2 1862
MLH1 370 94 935 319 65 0 0 0 0 0 0 1783
PTCH1 220 37 971 476 104 0 0 0 0 0 1 1735
FANCA 521 174 719 349 65 0 0 0 0 0 0 1674
BLM 150 121 1072 346 49 0 0 0 0 0 0 1638
WRN 133 51 1130 306 57 0 0 0 0 0 1 1625
AXIN2 40 8 1105 399 66 0 0 0 0 0 0 1582
NBN 174 105 963 303 32 0 0 0 0 0 2 1518
DSP 178 17 748 257 70 0 0 0 0 0 0 1258
SDHA 72 34 796 291 39 0 0 0 0 0 1 1186
PTEN 340 125 508 203 45 0 0 0 0 0 0 1138
STK11 125 33 637 335 47 0 0 0 0 0 1 1117
TERT 40 10 676 373 37 0 0 0 0 0 0 1094
NOTCH1 30 13 587 363 102 0 0 0 0 0 2 1077
DIS3L2 40 9 755 244 33 0 0 0 0 0 0 1055
COL4A5 851 141 57 10 26 0 0 0 0 0 1 1053
USH2A 189 225 521 101 95 0 0 0 0 0 0 1045
COL3A1 464 114 300 154 68 0 0 0 0 0 8 1030
FBN2 20 22 616 221 121 0 0 0 0 0 2 955
CHD7 262 63 415 165 70 0 0 0 0 0 1 942
COL12A1 22 7 649 198 53 0 0 0 0 0 1 927
KMT2D 318 182 256 153 84 0 0 0 0 0 3 925
CEP290 218 58 392 279 43 0 0 0 0 0 0 915
RELN 14 9 651 216 66 0 0 0 0 0 1 904
FLNA 86 39 405 241 123 0 0 0 0 0 3 881
RTEL1, RTEL1-TNFRSF6B 45 50 395 368 61 0 0 0 0 0 0 874
POLG 121 72 450 260 64 0 0 0 0 0 3 872
FANCM 59 11 612 154 31 0 0 0 0 0 0 865
SLX4 34 8 579 161 84 0 0 0 0 0 0 827
RAD51C 98 55 539 143 8 0 0 0 0 0 0 822
NF2 103 25 461 164 48 0 0 0 0 0 0 782
FH 163 52 424 141 17 0 0 0 0 0 0 772
COL5A1 84 20 394 217 79 0 0 0 0 0 7 762
CNTNAP2 31 9 531 174 66 0 0 0 0 0 2 758
MYO7A 75 169 457 60 47 0 0 0 0 0 2 747
NRXN1 17 8 514 181 43 0 0 0 1 0 0 731
JMJD1C 0 0 471 162 31 0 0 0 0 0 0 664
LOC107303340, VHL 146 44 389 57 50 0 0 0 0 0 0 659
EHMT1 43 25 278 209 80 0 0 0 0 0 0 628
EVC 63 63 265 212 81 0 0 0 0 0 0 614
NSD1 264 71 210 53 34 0 0 0 0 0 0 606
GATA2 25 9 378 146 30 0 0 0 0 0 0 579
ADAMTS2 16 10 304 230 73 0 0 0 0 0 0 573
CDH23 24 11 441 56 70 0 0 0 0 0 2 570
CDKN1C 54 7 265 211 22 0 0 0 0 0 1 555
DOCK7 16 8 379 132 18 0 0 0 0 0 0 551
RPGRIP1L 90 27 301 154 29 0 0 0 0 0 0 544
ATRX 35 16 234 195 83 0 0 0 0 0 2 543
PCDH15 20 87 382 42 33 0 0 0 0 0 0 540
COL4A4 46 117 286 62 52 0 0 0 0 0 0 535
EVC2 80 60 140 231 72 0 0 0 0 0 0 526
NIPBL 247 71 148 47 30 0 0 0 0 0 0 522
CTC1 23 5 357 102 50 0 0 0 0 0 0 515
PCNT 41 12 318 61 104 0 0 0 0 0 1 515
FRAS1 52 7 291 48 122 0 0 0 3 0 0 513
ADGRV1 41 27 348 34 67 0 0 0 0 0 0 503
EPG5 46 16 302 98 46 0 0 0 0 0 0 499
GNPTAB 170 92 152 125 30 0 0 0 0 0 0 498
COL5A2 12 11 276 126 87 0 0 0 0 0 4 495
FANCI 39 10 337 89 40 0 0 0 0 0 0 484
COL1A2 93 54 196 91 66 0 0 0 0 0 2 483
ASPM 154 21 249 42 42 0 0 0 0 0 0 482
ENG 171 40 191 86 32 0 0 0 0 0 0 482
COL7A1 183 21 238 32 31 0 0 0 0 0 2 481
MAN2B1 71 88 194 176 35 0 0 0 0 0 0 480
CC2D2A 76 48 295 99 28 0 0 0 0 0 0 476
MBD5 32 6 228 166 40 0 0 0 0 0 1 466
DNMT1 7 6 264 154 65 0 0 0 0 0 0 462
CBS 74 81 200 141 30 0 0 0 0 0 2 461
SUFU 32 7 297 114 11 0 0 0 0 0 0 458
ZEB2 126 17 182 97 46 0 0 0 0 0 0 458
ACVRL1 170 58 124 51 74 0 0 0 0 0 2 455
VHL 113 28 256 78 8 0 0 0 0 0 0 455
ARSB 80 86 220 75 30 0 0 0 0 0 0 453
GLA, RPL36A-HNRNPH2 191 103 121 68 13 0 0 0 0 1 3 452
COL4A3, MFF-DT 58 151 208 32 53 0 0 0 0 0 0 449
PIGO 30 11 317 89 16 0 0 0 0 0 1 445
SOS1 28 21 283 103 46 0 0 0 0 0 2 436
AOPEP, FANCC 44 49 250 102 23 0 0 0 0 0 0 429
LRP2 17 4 268 51 87 0 0 0 0 0 3 423
AHI1 79 18 233 78 37 0 0 0 0 0 0 418
PEX6 65 48 172 137 31 0 0 0 0 0 1 413
IDUA 88 74 139 130 29 0 0 0 0 2 1 407
KANSL1 24 6 204 133 45 0 0 0 0 0 0 407
TCF4 75 31 181 66 70 0 0 0 0 0 0 407
CREBBP 205 63 73 27 45 0 0 0 0 0 1 402
HGSNAT 55 38 209 112 27 0 0 0 0 0 0 401
GLI3 76 5 143 88 111 0 0 0 1 0 0 399
FBXL4 32 38 324 1 7 0 0 0 0 0 0 391
DYNC2H1 91 88 213 19 55 0 0 0 0 0 0 390
JAG1 97 17 177 80 20 0 0 0 0 0 0 387
FREM2 16 4 253 32 81 0 0 0 2 0 0 385
ABCC6 88 119 148 12 32 0 0 0 0 0 2 382
FKTN 33 25 243 77 24 0 0 0 0 0 0 380
SLC26A4 69 110 199 34 24 0 0 0 0 0 0 378
SIK1 5 0 174 147 55 0 0 0 0 0 0 375
WT1 33 10 209 118 35 0 0 0 0 0 0 375
PEX1 57 88 151 103 27 0 0 0 0 0 0 373
DHCR7 77 97 153 100 29 0 0 0 0 0 2 372
PIGN 44 30 216 76 14 0 0 0 0 0 0 370
ATP7A 31 4 136 141 52 0 0 0 0 0 0 363
LRP4 10 2 251 88 44 0 0 0 0 0 0 362
EXT1 218 11 92 25 21 0 0 0 0 0 0 360
BBS10 73 75 160 76 17 0 0 0 0 0 0 351
ADAMTS17 6 0 227 30 89 0 0 0 0 0 0 350
BBS2 55 62 158 102 23 0 0 0 0 0 0 350
SH3BP2 10 1 169 64 119 0 0 0 0 0 0 340
FKRP 41 12 190 86 11 0 0 0 0 0 0 337
PTCH2 3 1 205 97 35 0 0 0 0 0 0 336
PLOD1 27 4 231 69 25 0 0 0 0 0 0 335
PTPN11 96 51 151 54 52 0 0 0 0 0 6 335
NAGLU 62 70 134 110 14 0 0 0 0 0 0 334
CPLANE1 74 25 180 38 51 0 0 0 0 0 0 332
MKS1 52 43 171 101 13 0 0 0 0 0 0 331
ERCC4 15 7 224 62 43 0 0 0 0 0 0 330
SGSH 49 45 150 113 29 0 0 0 0 0 0 326
ABCC8 49 111 159 17 10 0 0 0 0 0 0 324
DOK7 28 7 199 64 25 0 0 0 0 0 0 321
TTC7A 33 6 192 75 24 0 0 0 0 0 0 320
SPATA5 42 14 196 61 10 0 0 0 0 0 0 318
SPRED1 53 8 179 55 30 0 0 0 0 0 0 318
LOC107982234, WT1 7 2 232 75 12 0 0 0 0 0 0 313
RAF1 27 30 205 85 37 0 0 0 0 0 2 311
SMC1A 57 39 151 53 26 0 0 0 0 0 0 311
SDHD 49 14 189 58 4 0 0 0 0 0 0 310
SNHG14, UBE3A 127 28 120 35 11 0 0 0 0 0 1 310
MED12 13 7 152 100 38 0 0 0 0 0 0 308
BUB1B 26 2 207 62 16 0 0 0 0 0 0 307
SMARCAL1 41 15 137 125 21 0 0 0 0 0 0 307
LOC100507346, PTCH1 48 6 167 79 22 0 0 0 0 0 0 304
ANKRD11 104 23 73 60 42 0 0 0 0 0 2 303
FANCA, ZNF276 75 27 139 72 21 0 0 0 0 0 0 301
BBS9 34 5 183 57 40 0 0 0 0 0 0 297
ZNF423 1 2 185 83 30 0 0 0 0 0 0 297
FANCD2, LOC107303338 35 7 172 71 39 0 0 0 0 0 0 295
FREM1 9 1 183 32 76 0 0 0 0 0 0 295
FANCG 63 13 137 95 8 0 0 0 0 0 0 294
HNF1B 150 68 54 15 24 0 0 0 0 0 0 294
CARS2 4 1 204 71 15 0 0 0 0 0 1 291
ZNF469 6 3 199 55 28 0 0 0 0 0 2 291
BRCA2 41 1 150 68 28 0 0 0 0 0 1 286
FANCC 58 37 138 70 7 0 0 0 0 0 0 282
PAX6 195 34 45 13 10 0 0 0 0 0 1 282
CDON 4 0 157 37 86 0 0 0 0 0 0 281
MT-ND5 15 4 115 48 104 0 0 0 0 0 0 280
LRPPRC 8 42 189 24 29 0 0 0 0 0 1 279
QARS1 22 7 201 51 1 0 0 0 0 0 0 279
SPG7 79 20 139 44 20 0 0 0 0 0 3 278
SKI 14 7 160 86 22 0 0 0 0 0 0 277
TSC1 5 1 157 32 84 0 0 0 0 0 0 277
BBS12 55 31 134 69 29 0 0 0 0 0 0 275
INPP5E 27 6 172 56 33 0 0 0 0 0 0 275
LAMA3 14 71 162 11 20 0 0 0 0 0 0 275
MCOLN1 49 31 84 139 14 0 0 0 0 0 0 275
LAMB3 38 79 117 19 32 0 0 0 0 0 0 272
SLC26A2 35 30 121 66 32 0 0 0 0 0 0 269
ACVR2B 2 1 168 27 77 0 0 0 0 0 0 266
GLB1 67 64 91 87 11 0 0 0 0 0 2 266
ROGDI 18 7 170 63 21 0 0 0 0 0 0 266
SLC6A8 40 6 65 101 54 0 0 0 0 0 9 266
INSR 19 0 154 29 62 0 0 0 0 0 0 263
DYRK1A 50 24 95 73 24 0 0 0 0 0 0 261
PIK3CA 24 5 148 71 13 0 0 0 0 0 0 260
KIF7 18 4 164 51 42 0 0 0 0 0 0 259
MT-CYB 7 2 125 36 94 0 0 0 0 0 0 259
SLC2A10 23 7 168 59 31 0 0 0 0 0 1 259
DIAPH1 10 3 158 71 17 0 0 0 0 0 0 258
EXT2 95 2 94 48 40 0 0 0 0 0 1 257
ASTN2, TRIM32 17 2 190 47 9 0 0 0 0 0 0 256
POMT1 31 14 136 51 28 0 0 0 0 0 0 256
ETFDH 51 34 117 63 10 0 0 0 0 0 0 255
LIG4 15 6 178 34 27 0 0 0 0 0 0 251
POMT2 24 8 154 52 15 0 0 0 0 0 2 251
BRAF 46 54 123 53 27 0 0 0 0 0 11 250
ERCC6 33 56 129 22 25 0 0 0 0 0 0 250
CHST3 19 1 170 37 33 0 0 0 0 0 0 249
OFD1 143 13 52 16 29 0 0 0 0 0 0 249
WDR35 22 8 148 42 40 0 0 0 0 0 0 246
PEX5 9 0 173 52 20 0 0 0 0 0 0 244
OPA3 6 4 122 31 79 0 0 0 0 0 1 243
POLH, POLR1C 14 3 172 20 41 0 0 0 0 0 0 243
MT-ATP6 15 5 85 47 92 0 0 0 0 0 1 242
COL5A1, LOC101448202 22 11 121 53 38 0 0 0 0 0 2 241
CBL 11 3 150 57 22 0 0 0 0 0 0 239
GLI2 20 9 102 64 61 0 0 0 0 0 0 237
HRAS, LRRC56 20 9 135 72 12 0 0 0 0 0 0 237
USH1C 19 34 154 22 21 0 0 0 0 0 0 237
LAMC2 17 64 104 21 34 0 0 0 0 0 0 234
LOC101927870, RELN 0 2 162 56 21 0 0 0 0 0 0 234
FYCO1 10 2 136 28 62 0 0 0 0 0 0 233
OBSL1 14 5 145 21 46 0 0 0 0 0 0 231
PEX10 29 21 115 81 16 0 0 0 0 0 0 230
BBS1, ZDHHC24 42 32 110 56 14 0 0 0 0 0 1 229
CNTN2 2 2 145 62 19 0 0 0 0 0 0 228
EP300 58 26 71 38 44 0 0 0 0 0 3 228
CCBE1 6 0 155 21 47 0 0 0 0 0 5 227
MVK 30 9 94 35 13 0 0 0 0 0 90 227
FGFR1 22 11 115 47 53 0 0 0 0 0 0 226
AKT1 4 0 124 87 12 0 0 0 0 0 0 223
SMAD4 7 0 154 15 49 0 0 0 0 0 1 223
FARS2 31 19 132 51 14 0 0 0 0 0 0 221
GALNS 66 31 97 21 27 0 0 0 0 0 0 221
RAPSN 28 8 110 73 15 0 0 0 0 0 0 220
CEP41 7 1 161 35 20 0 0 0 0 0 0 219
ALPL 42 69 82 21 27 0 0 0 0 0 1 218
CSPP1 35 6 126 41 10 0 0 0 0 0 0 217
DAG1 8 1 155 44 10 0 0 0 0 0 0 217
SATB2 44