ClinVar Miner

Variants from GeneDx

Location: United States  Primary collection method: clinical testing
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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 risk factor not provided total
23548 12827 98542 93646 128216 3 128 356881

Gene and significance breakdown #

Total genes and gene combinations: 11187
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
TTN 220 251 1363 2990 990 0 92 5906
BRCA2 752 52 1267 887 267 0 0 3225
ATM 171 92 814 476 194 0 0 1747
TSC2 220 38 462 724 273 0 0 1717
NF1 410 159 636 397 110 0 1 1713
APC 172 43 879 433 143 1 2 1673
BRCA1 425 48 532 463 185 0 0 1653
MSH6 207 28 760 420 140 0 0 1555
RYR2 31 43 489 430 498 0 0 1491
POLE 4 12 757 590 124 0 0 1487
FBN1 280 191 413 328 182 0 0 1394
RYR1 72 96 438 417 318 0 0 1341
SYNE1 11 16 298 473 473 0 0 1271
DMD 123 14 121 450 441 0 0 1149
CACNA1A 65 38 453 330 223 0 0 1108
MSH2 130 24 513 304 125 0 1 1097
ATM, C11orf65 109 67 468 296 110 0 1 1051
USH2A 108 36 303 270 327 0 0 1044
MYBPC3 233 87 360 191 159 0 2 1032
PALB2 157 65 475 248 85 0 0 1030
FBN2 5 9 448 308 225 0 0 995
POLD1 1 0 475 435 75 0 0 986
COL5A1 27 15 262 344 329 0 0 977
ADGRV1 18 18 237 324 379 0 0 976
DYNC1H1 22 30 338 349 226 0 0 965
NOTCH1 4 7 371 416 137 0 0 934
PMS2 110 25 463 223 100 0 0 921
MLH1 147 30 348 258 116 0 1 900
MYH7 52 129 331 193 180 0 0 885
SCN5A 88 76 338 200 178 0 1 881
PLEC 9 5 153 493 185 0 0 845
BRIP1 53 31 440 206 93 0 0 823
FLNA 24 18 341 329 108 0 0 820
SCN2A 94 75 305 159 158 0 0 791
PKD1 137 57 400 102 90 0 0 786
CDH1 36 14 344 264 122 0 0 780
DSP 59 57 312 201 143 0 2 774
COL11A1 12 15 284 219 239 0 0 769
FLNC 16 23 312 236 178 0 0 765
KMT2D 103 17 244 171 217 0 0 752
NEB 21 18 221 356 116 0 0 732
KCNH2 199 104 179 126 123 0 1 730
CHD7 121 26 258 164 159 0 0 728
MYO7A 49 26 279 179 189 0 0 722
ANK2 4 4 297 218 196 0 0 719
ALMS1 33 16 387 176 94 0 0 704
CACNA1C 18 10 204 201 271 0 0 704
CHEK2 43 67 352 176 66 0 0 704
ZNF469 1 12 342 235 104 0 0 694
CDH23 27 14 211 204 237 0 0 693
SPTAN1 9 5 129 342 201 0 0 686
POLG, POLGARF 51 55 251 191 128 0 0 676
COL2A1 113 31 181 161 166 0 0 652
TNXB 0 9 368 171 104 0 0 652
ANKRD11 131 14 187 180 136 0 0 648
BARD1 22 31 343 142 104 0 0 642
KCNT1 18 11 101 341 169 0 0 640
KIF1A 28 12 225 213 158 0 0 636
TSC1 99 8 152 243 115 0 0 617
NRXN1 9 13 199 239 154 0 0 614
OTOG 7 14 214 177 198 0 0 610
ABCA4 121 65 94 102 226 0 0 608
COL6A3 14 16 209 202 166 0 0 607
TRIO 23 6 218 158 201 0 0 606
FANCM 1 22 459 75 45 0 0 602
COL5A2 1 8 220 214 158 0 0 601
KCNQ2 125 66 91 160 155 0 0 597
KCNQ1 148 88 137 105 116 0 2 596
DYNC2H1 18 31 82 158 304 0 0 593
NBN 7 60 246 173 102 0 0 588
WFS1 19 32 258 153 126 0 0 588
CNTNAP2 12 12 241 162 160 0 0 587
COL12A1 3 15 293 160 116 0 0 587
LAMA2 35 22 138 212 173 0 0 580
DNAH11 11 6 87 128 347 0 0 579
COL3A1 49 38 186 173 127 0 0 573
SCN1A 144 83 156 94 95 0 0 572
MYO15A 34 33 212 160 131 0 0 570
COL11A2 8 8 277 167 109 0 0 569
CHD2 47 14 124 219 148 0 0 552
AXIN2 1 0 292 182 74 0 0 549
PKHD1 36 35 136 139 201 0 0 547
COL1A1 132 18 138 168 83 0 0 539
DYSF 33 7 86 215 193 0 0 534
LOC102724058, SCN1A 106 109 143 100 72 0 0 530
PTEN 188 45 163 97 34 0 1 528
TP53 103 51 137 157 67 0 0 515
ITPR1 9 6 168 149 181 0 0 513
DOCK8 11 3 56 175 261 0 0 506
COL4A4 9 12 135 144 199 0 0 499
SMARCA4 16 19 206 184 74 0 0 499
HUWE1 7 14 212 124 132 0 0 488
COL1A2 77 14 140 145 105 0 0 481
SCN8A 33 45 145 142 110 0 0 475
NSD1 106 37 113 96 120 0 0 472
PCNT 8 4 56 161 239 0 0 468
LAMA4 0 1 147 155 159 0 0 462
MYH14 3 0 157 139 162 0 0 461
COL4A1 22 20 126 91 200 0 0 459
HSPG2 3 1 94 139 220 0 0 457
CACNA1S 5 10 138 177 126 0 0 456
ARID1B 116 10 115 100 110 0 0 451
MYH11 1 6 136 167 138 0 0 448
STK11 27 6 160 149 106 0 0 448
MYLK 0 0 234 168 45 0 0 447
SOS1 30 10 167 118 121 0 0 446
DEPDC5 25 14 163 112 127 0 0 441
PCDH15 7 4 123 125 178 0 0 437
RELN 2 7 98 154 176 0 0 437
SMARCA2 22 11 83 118 201 0 0 435
CREBBP 39 19 175 80 121 0 0 434
NALCN 24 18 153 115 124 0 0 434
EHMT1 41 4 115 131 138 0 0 429
DNAH5 14 9 68 77 260 0 0 428
MTOR 6 5 95 106 216 0 0 428
OTOGL 5 16 123 126 158 0 0 428
MUTYH 42 32 183 115 54 0 0 426
SZT2 3 13 217 128 61 0 0 422
ASPM 63 12 79 174 92 0 0 420
CACNA1D 2 2 137 159 119 0 0 419
GRIN2A 25 17 154 153 70 0 0 419
COL4A2 2 9 76 98 232 0 0 417
CACNA1E 4 7 108 118 178 0 0 415
MED12 12 11 136 158 97 0 0 414
PIEZO2 5 7 78 91 231 0 0 412
HERC1 1 10 99 148 152 0 0 410
KANSL1 26 4 30 221 130 0 0 410
COL6A2 15 10 109 145 126 0 0 405
COL4A3, MFF-DT 17 17 114 95 161 0 0 404
FLNB 3 3 103 135 160 0 0 404
CHD8 32 11 190 79 91 0 0 403
KMT2A 89 11 124 82 96 0 0 402
MYPN 2 1 122 121 153 0 0 399
GAA 51 15 106 149 78 0 0 398
ABCC9 5 7 103 148 133 0 0 396
LRP2 3 8 97 67 219 0 0 394
COL6A1 13 10 87 148 134 0 0 392
CUBN 3 3 45 127 213 0 0 391
LZTR1 23 53 188 67 58 0 0 389
EP300 23 13 108 84 159 0 0 387
GRIN2B 38 21 110 122 96 0 0 387
PKP2 75 28 108 97 78 0 0 386
VPS13A 9 2 43 153 179 0 0 386
DST 4 6 47 163 164 0 0 384
BMPR1A 8 9 152 112 99 0 0 380
PRDM16 1 3 124 178 75 0 0 380
MYH6 0 2 200 128 47 0 0 376
MET 1 0 254 83 37 0 0 375
ACTN2 2 1 148 110 113 0 0 374
OTOF 7 9 116 114 128 0 0 374
FAT4 0 3 169 87 114 0 0 372
MYH9 6 1 102 120 143 0 0 372
VPS13B 57 20 92 91 112 0 0 372
CEP290 43 16 101 122 89 0 0 371
LMNA 70 43 122 64 72 0 0 371
RTTN 2 8 87 128 145 0 0 370
MBD5 16 8 123 173 48 0 0 368
COL9A1 1 6 87 117 154 0 0 365
TBCEL-TECTA, TECTA 10 10 171 94 80 0 0 365
ALPK3 7 12 172 111 61 0 0 363
SHANK3 35 12 114 86 114 0 0 361
SCN10A 0 0 179 116 64 0 0 359
ALK 0 0 145 96 117 0 0 358
MECP2 86 12 74 126 60 0 0 358
CACNA1G 2 4 209 58 82 0 0 355
CACNA1H 1 3 170 57 121 0 0 352
PNKP 15 23 116 136 57 0 0 346
RBM20 9 4 137 115 79 0 0 344
ADAMTS2 1 2 95 151 94 0 0 343
ATP1A2 14 12 115 112 90 0 0 343
KCNQ3 7 6 108 122 100 0 0 343
FLCN 71 10 124 88 47 0 0 340
CHRNA4 2 3 104 124 103 0 0 336
CPLANE1 25 15 88 100 108 0 0 336
A2ML1 0 0 24 91 217 0 0 332
GLDC 18 9 89 108 108 0 0 332
RET 38 4 142 86 60 0 0 330
MYO3A 3 6 114 75 131 0 0 329
TRIOBP 6 10 108 116 87 0 0 327
RAD51D, RAD51L3-RFFL 16 16 154 106 34 0 0 326
PTPRQ 2 4 75 88 154 0 0 323
RAD51C 21 25 155 90 31 0 0 322
DSG2 14 24 122 83 78 0 0 321
FH 54 46 129 63 28 0 0 320
MYH11, NDE1 2 1 130 115 71 0 0 319
ATRX 15 15 148 84 56 0 0 318
ANKRD26 2 0 155 58 102 0 0 317
PTPN11 93 17 86 57 63 0 0 316
STXBP1 89 17 30 113 67 0 0 316
TRPM4 0 0 124 101 91 0 0 316
SLC2A1 72 24 84 81 53 0 0 314
LAMC3 1 1 82 96 133 0 0 313
ZEB2 52 5 67 115 74 0 0 313
AOPEP, FANCC 9 17 156 85 45 0 0 312
SPG11 39 13 92 104 64 0 0 312
LDLR 117 67 61 36 28 0 0 309
PTCH1 34 7 98 98 72 0 0 309
KAT6A 37 11 105 68 87 0 0 308
LTBP4 2 3 95 128 79 0 0 306
MED13L 44 16 96 50 100 0 0 306
ASXL3 45 15 73 61 111 0 0 305
COL9A3 0 2 102 99 99 0 0 302
SETD5 51 8 137 51 55 0 0 302
CDKL5 89 24 60 91 37 0 0 301
OPA1 28 22 108 76 65 0 0 299
WDR62 16 10 69 118 85 0 0 298
CBS 34 16 56 116 75 0 0 297
IQSEC2 34 15 100 113 34 0 0 296
SPG7 21 18 64 112 81 0 0 296
SPINK5 27 1 20 46 202 0 0 296
USP9X 18 8 127 38 104 0 0 295
​intergenic 6 0 15 31 242 0 0 294
AUTS2 16 5 101 66 106 0 0 294
FANCA 18 5 45 68 158 0 0 294
AKAP9 0 0 15 116 160 0 0 291
DICER1 18 3 122 83 64 0 0 290
TRPV4 10 6 89 116 68 0 0 289
BRAF 56 14 57 79 82 0 0 288
LDB3 0 1 96 99 92 0 0 288
SMAD4 20 4 108 117 38 0 0 287
NIPBL 37 19 76 75 79 0 0 286
SYNE2 0 0 4 26 256 0 0 286
TRDN 2 2 50 111 121 0 0 286
CC2D2A 16 17 79 84 89 0 0 285
ELN 24 10 119 98 34 0 0 285
MYO6 7 7 73 90 108 0 0 285
SYNGAP1 56 5 86 64 74 0 0 285
ZFYVE26 3 4 57 105 114 0 0 283
PRKAG2 3 2 81 85 111 0 0 282
APOB 7 6 139 77 51 0 0 280
KMT2B 13 7 134 40 85 0 0 279
RAF1 22 16 84 79 78 0 0 279
ALDH7A1 28 17 66 81 86 0 0 278
DNMT1 3 1 76 102 96 0 0 278
DYRK1A 52 14 66 99 47 0 0 278
NEBL 0 0 43 127 108 0 0 278
DSC2 3 23 100 93 58 0 0 277
JAG1 73 7 51 54 90 0 1 276
ATP7B 42 25 63 91 54 0 0 275
LAMB1 0 4 52 104 115 0 0 275
SETX 9 6 86 76 98 0 0 275
COL5A1, LOC101448202 4 8 99 89 74 0 0 274
DNAH8 0 0 20 0 253 0 0 273
PCDH19 50 37 78 68 40 0 0 273
SH3TC2 11 13 61 109 77 0 0 271
SKI 2 3 130 96 40 0 0 271
COL7A1 176 15 35 9 35 0 0 270
FLG 109 1 7 43 109 0 0 269
LRPPRC 4 9 54 111 91 0 0 269
LRRK2 2 1 34 72 160 0 0 269
VCL 0 0 113 85 71 0 0 269
BAP1 9 7 157 87 8 0 0 268
FGFR3 24 4 92 84 63 0 0 267
TNNT2 22 14 74 71 85 0 0 266
KAT6B 31 6 88 74 66 0 0 265
LRP5 7 4 86 75 93 0 0 265
ARID1A 9 7 104 75 68 0 0 263
GH-LCR, SCN4A 23 14 89 68 68 0 0 262
IGHMBP2 18 7 76 95 65 0 0 261
BRCA1, LOC126862571 69 1 107 66 17 0 0 260
MAP2K2 8 4 57 85 106 0 0 260
KCNMA1 3 6 95 80 75 0 0 259
SOS2 4 0 54 80 121 0 0 259
BDP1 0 0 0 121 137 0 0 258
TCOF1 28 8 74 52 95 0 0 257
SBF1 0 2 77 106 71 0 0 256
JUP 1 1 102 83 67 0 0 254
EVC 5 4 21 81 142 0 0 253
TJP2 2 2 103 68 78 0 0 253
TCF4 40 10 56 78 67 0 0 251
KDM6A 17 6 103 48 75 0 0 249
DNAH17 0 0 3 0 245 0 0 248
GRIN1 14 10 61 121 41 0 0 247
USH1C 7 3 46 78 112 0 0 246
INF2 1 3 36 99 106 0 0 245
PLEKHG5 0 4 69 106 66 0 0 245
WWOX 7 11 64 93 68 0 0 243
TBC1D24 17 19 84 79 43 0 0 242
TGFBR2 12 14 102 66 47 0 0 241
BLM 19 7 104 43 67 0 0 240
RECQL 0 2 128 62 48 0 0 240
MEN1 79 34 46 41 39 0 0 239
RAI1 22 2 78 58 79 0 0 239
SLC26A4 45 20 62 63 49 0 0 239
POGZ 37 12 71 36 82 0 0 238
COL4A5 46 9 49 75 58 0 0 237
MFN2 14 20 73 71 59 0 0 237
RTEL1, RTEL1-TNFRSF6B 5 8 85 47 92 0 0 237
SNHG14, UBE3A 37 10 93 65 32 0 0 237
ALG13 1 1 85 120 29 0 0 236
ATR 0 2 31 109 94 0 0 236
CLCN1 31 23 57 68 57 0 0 236
AGL 13 7 29 111 75 0 0 235
COL9A2 1 5 76 86 67 0 0 235
AHI1 14 10 57 87 65 0 0 233
ANO5 17 12 41 84 79 0 0 233
CACNB2 0 1 31 91 110 0 0 233
CDKN2A 25 17 113 59 19 0 0 233
CIT 0 0 36 92 105 0 0 233
ELP1 1 1 34 67 130 0 0 233
EVC2 6 6 21 86 114 0 0 233
MYT1L 18 5 53 47 110 0 0 233
ACTG1 6 14 36 88 88 0 0 232
CAPN3 28 23 41 68 72 0 0 232
RB1 29 5 35 90 72 0 0 231
DCHS1 0 0 121 58 50 0 0 229
GLI3 15 6 76 51 81 0 0 229
TPM1 11 11 73 56 78 0 0 229
ATP1A3 22 13 90 53 50 0 0 228
POMT1 15 8 42 95 68 0 0 228
AGRN 0 2 39 80 106 0 0 227
BRAT1 5 14 81 79 48 0 0 227
LARS1 1 6 22 79 119 0 0 227
POT1 5 6 117 45 53 0 0 226
SLC6A8 22 9 76 105 14 0 0 226
FGFR2 32 9 57 61 66 0 0 225
PIGN 7 24 54 54 86 0 0 225
PLOD1 8 5 56 93 62 0 0 224
ABCA1 0 1 22 56 144 0 0 223
CENPF 3 8 48 73 91 0 0 223
FOXG1 62 12 27 96 26 0 0 223
MTR 1 4 34 68 116 0 0 223
ABCC8 15 9 56 58 84 0 0 222
CACNA2D1 0 0 12 106 104 0 0 222
HCN4 1 1 90 93 37 0 0 222
MACF1 0 0 125 0 97 0 0 222
TTC21B 2 3 56 81 80 0 0 222
ATP7A 6 4 97 67 47 0 0 221
FGFR1 17 18 103 58 25 0 0 221
DNM2 12 5 45 115 43 0 0 220
KIF7 9 3 84 70 54 0 0 220
HCFC1 0 2 88 84 45 0 0 219
TXNRD2 0 0 67 82 70 0 0 219
AARS1 1 9 75 88 45 0 0 218
CPS1 3 6 16 91 102 0 0 218
TPP1 21 11 76 66 44 0 0 218
ADCY5 7 6 68 59 76 0 0 216
SMAD3 9 20 79 67 41 0 0 216
SCN3A 2 2 162 1 47 0 0 214
WDFY3 5 3 169 0 37 0 0 214
FN1 0 1 10 43 159 0 0 213
NLRP3 11 7 97 42 56 0 0 213
MEGF10 2 9 39 104 58 0 0 212
MYH3 4 13 43 34 118 0 0 212
PLA2G6 21 27 66 49 49 0 0 212
EFTUD2 26 10 35 45 95 0 0 211
ARFGEF2 1 1 45 82 81 0 0 210
ATP6V0A2 2 2 65 87 54 0 0 210
CLN3 11 8 69 74 48 0 0 210
L1CAM 48 14 64 35 49 0 0 210
GCK 44 53 43 34 35 0 0 209
KIAA0586 9 6 65 65 64 0 0 209
PRKG1 1 0 52 90 66 0 0 209
LYST 1 4 51 34 118 0 0 208
PNPT1 2 7 57 73 69 0 0 208
BAG3 11 13 77 58 48 0 0 207
SCN1B 4 3 85 54 61 0 0 207
NPC1 29 18 30 71 58 0 0 206
EPG5 6 8 44 53 94 0 0 205
EYS 19 7 18 16 145 0 0 205
WASHC5 0 3 25 39 138 0 0 205
FAT1 0 0 48 58 98 0 0 204
SDHA 18 16 99 43 28 0 0 204
DTNA 0 0 26 83 94 0 0 203
MITF 10 7 116 51 19 0 0 203
SETBP1 22 1 86 44 50 0 0 203
SMCHD1 3 1 20 50 129 0 0 203
ALDH18A1 5 7 79 53 57 0 0 201
CDK5RAP2 0 2 39 80 80 0 0 201
SLC13A5 6 3 50 86 56 0 0 201
SLC12A3 24 15 27 40 94 0 0 200
CASK 42 10 63 51 33 0 0 199
DOK7 8 6 31 66 88 0 0 199
PLCB1 1 0 17 73 108 0 0 199
SCN1A, SCN9A 7 6 110 47 29 0 0 199
TRIP11 0 1 15 91 92 0 0 199
DES 8 14 99 39 38 0 0 198
LOXHD1 3 5 36 73 81 0 0 198
AHDC1 31 6 58 40 62 0 0 197
CBL 18 4 85 43 46 0 0 196
GABBR2 0 0 29 49 118 0 0 196
KDM5C 27 11 80 40 38 0 0 196
SETD2 9 3 93 32 59 0 0 196
TERT 6 6 95 46 43 0 0 196
CHRNA2 0 0 86 60 48 0 0 194
PIGO 1 15 85 65 27 0 0 193
WNK1 3 2 41 57 90 0 0 193
PKD1L1 2 0 24 0 166 0 0 192
SCN11A 1 1 50 56 84 0 0 192
TMC1 9 8 59 63 53 0 0 192
JPH2 0 2 71 73 45 0 0 191
ATP8B1 2 0 14 50 124 0 0 190
HSD17B4 5 8 27 70 80 0 0 190
RARS2 7 20 43 65 56 0 0 190
TSPEAR 8 9 52 71 50 0 0 190
CEP104 1 0 21 59 107 0 0 188
ASXL1 26 5 45 51 59 0 0 186
PDZD7 3 7 71 50 55 0 0 186
AARS2, POLR1C 6 10 44 68 57 0 0 185
AP5Z1 1 2 36 68 78 0 0 185
GABRA1 10 14 53 53 55 0 0 185
LAMP2 17 5 41 61 61 0 0 185
MYO18B 0 1 21 0 163 0 0 185
TNC 0 0 0 64 121 0 0 185
WDR11 0 0 21 44 120 0 0 185
CENPE 0 2 35 70 77 0 0 184
DDX3X 74 18 40 29 23 0 0 184
DOCK7 0 0 40 64 80 0 0 184
HDAC4 1 3 36 52 92 0 0 184
ABCB11 4 4 10 52 113 0 0 183
LARS2 1 4 39 81 58 0 0 183
NEXMIF 26 1 93 42 21 0 0 183
PACS1 1 1 49 58 74 0 0 183
HBA-LCR, NPRL3 6 3 47 59 67 0 0 182
RIN2 0 0 49 89 44 0 0 182
ALPL 28 11 38 41 63 0 0 181
ANO3 0 0 25 45 111 0 0 181
BRWD3 5 3 92 21 60 0 0 181
DIAPH1 5 0 58 78 40 0 0 181
MSH3 1 8 101 6 65 0 0 181
PDGFRB 3 0 51 45 82 0 0 181
HERC2 0 1 164 5 10 0 0 180
ITGA7 0 3 48 68 61 0 0 180
SLC2A10 4 7 63 67 39 0 0 180
DSPP 0 2 32 55 90 0 0 179
GLI2 2 4 84 25 64 0 0 179
TGFBR1 5 17 79 51 28 0 0 179
PIEZO1 3 1 58 28 88 0 0 178
PYGM 13 15 48 72 30 0 0 178
SLC6A1 20 24 46 34 54 0 0 178
RPGRIP1L 10 6 61 55 45 0 0 177
TMEM43 1 1 62 56 57 0 0 177
DOCK6 6 2 21 66 81 0 0 176
GARS1 3 2 54 64 54 0 0 176
ACADVL 39 24 43 46 23 0 0 175
NEB, RIF1 13 6 69 61 26 0 0 175
NOTCH3 13 13 44 26 79 0 0 175
PRX 3 5 70 65 32 0 0 175
FKTN 8 5 38 79 44 0 0 174
QARS1 1 9 67 82 15 0 0 174
TRAPPC11 4 8 32 52 78 0 0 174
BIN1 0 1 34 60 78 0 0 173
LPIN2 4 0 32 71 66 0 0 173
PAH 89 16 11 9 48 0 0 173
VWF 6 6 78 11 72 0 0 173
POMT2 7 6 41 65 53 0 0 172
RECQL4 11 6 68 51 36 0 0 172
TRRAP 2 1 100 0 69 0 0 172
DNA2 0 4 45 49 73 0 0 171
GABRG2 14 12 50 51 45 0 0 171
MFSD8 10 9 45 69 38 0 0 171
MYBPC1 2 0 9 64 96 0 0 171
RIPOR2 0 0 0 51 120 0 0 171
DNMT3A 22 16 60 39 33 0 0 170
PSTPIP1 2 1 25 62 80 0 0 170
SAMD9 4 7 137 11 11 0 0 170
SDHB 41 9 60 28 32 0 0 170
SPAST 32 25 34 48 31 0 0 170
ELAC2 4 5 11 71 78 0 0 169
GALC 16 9 15 35 94 0 0 169
MEFV 3 0 73 42 51 0 0 169
MYOM1 0 0 0 17 152 0 0 169
NPHP3, NPHP3-ACAD11 8 4 32 65 60 0 0 169
PNPLA6 5 7 27 53 77 0 0 169
RAB3GAP2 2 2 48 56 61 0 0 169
ESPN 0 2 67 55 44 0 0 168
FIG4 11 7 36 51 63 0 0 168
NTHL1 4 11 116 36 1 0 0 168
TRAPPC9 5 7 40 58 58 0 0 168
COQ8A 9 11 36 55 56 0 0 167
LARGE1 2 0 25 71 69 0 0 167
LRSAM1 0 3 33 76 55 0 0 167
NOTCH2 7 2 41 26 91 0 0 167
NSUN2 7 4 17 53 86 0 0 167
PDGFRA 0 0 74 29 64 0 0 167
SACS 14 13 61 48 31 0 0 167
SLC25A22 2 1 36 82 46 0 0 167
ACTC1, GJD2-DT 2 9 59 35 61 0 0 166
CCDC40 1 0 21 30 114 0 0 166
DUOX2 10 15 60 17 64 0 0 166
KCNB1 17 13 50 61 25 0 0 166
MYH2, MYHAS 3 5 61 42 55 0 0 166
SLC12A6 1 0 33 63 69 0 0 166
GLA, RPL36A-HNRNPH2 37 12 32 47 37 0 0 165
DHCR7 27 25 36 40 36 0 0 164
DIAPH3 0 0 28 79 57 0 0 164
DNAH9 1 0 24 0 139 0 0 164
BLTP1 2 2 53 1 105 0 0 163
CACNA1B 0 0 0 82 81 0 0 163
EEF1A2 7 7 28 68 53 0 0 163
MEGF8 0 0 59 48 56 0 0 163
ALS2 3 5 29 53 72 0 0 162
CLN6 8 7 49 58 40 0 0 162
EIF2AK4 2 1 5 22 132 0 0 162
FANCC 7 9 57 67 22 0 0 162
GATA4 0 1 66 49 46 0 0 162
KIF11 18 5 16 45 78 0 0 162
SELENON 14 10 22 60 56 0 0 162
TNNI3 21 20 42 37 42 0 0 162
COL17A1 16 5 6 6 128 0 0 161
DNM1L 5 4 25 64 63 0 0 161
NEXN 1 1 82 48 29 0 0 161
SEMA3E 0 0 23 41 97 0 0 161
SERAC1 10 7 15 80 49 0 0 161
ABCD4 1 0 14 55 90 0 0 160
ACAN 5 3 42 11 98 0 0 159
ASAH1 2 5 10 41 101 0 0 159
CTNND2 0 7 4 55 93 0 0 159
GABRB3 4 10 41 59 45 0 0 159
TMPO 0 0 60 53 46 0 0 159
TUBGCP6 3 10 48 57 41 0 0 159
DNM1 4 6 34 69 45 0 0 158
FANCI 1 1 18 45 93 0 0 158
GJB2 62 23 37 13 22 0 0 157
MIB1 0 2 57 74