ClinVar Miner

Variants by gene

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Gene type:
ClinVar version:
Total genes and gene combinations: 33028
Total variants: 926960
Total conditions: 14725
Total submitters: 1891
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Filter Gene or gene combination Variants Conditions Submitters
TTN 14716 118 87
BRCA2 13131 72 146
​intergenic 12683 346 113
BRCA1 11594 44 122
APC 8491 64 74
NF1 6937 63 100
ATM 5857 36 86
TSC2 5845 34 66
MSH6 5341 37 74
POLE 4463 28 42
FBN1 4328 66 83
MSH2 4211 39 78
DMD 3818 54 87
RYR2 3730 47 65
PALB2 3634 44 72
ATM, C11orf65 3529 35 87
RYR1 3368 65 74
MLH1 3293 32 75
BRIP1 3176 26 58
DICER1 3036 17 31
LDLR 3024 15 84
SYNE1 2993 26 51
PLEC 2963 16 35
PMS2 2879 30 66
SMARCA4 2657 26 45
USH2A 2649 33 81
NEB 2590 10 43
CDH1 2543 31 61
TSC1 2506 27 57
POLD1 2457 17 33
CHEK2 2338 47 74
BARD1 2310 18 40
RECQL4 2291 17 31
DSP 2264 67 62
MYBPC3 2160 51 79
MYH7 2134 67 79
APOB 2114 20 55
SCN5A 2099 82 77
TP53 2067 97 87
NBN 2037 20 56
RAD50 1989 9 33
CFTR 1971 26 69
FLNC 1884 25 41
ALMS1 1877 16 61
ALK 1874 22 30
PTCH1 1867 35 50
PTEN 1863 66 94
KCNH2 1797 44 55
VPS13B 1793 19 72
ADGRV1 1748 25 57
ABCA4 1710 44 61
PKHD1 1704 16 71
COL6A3 1674 20 45
BLM 1668 8 47
LAMA2 1668 20 66
COL3A1 1647 27 55
PKD1 1645 26 55
AXIN2 1639 13 27
STK11 1632 34 50
DYSF 1619 20 52
RET 1600 52 67
DYNC1H1 1545 45 62
CACNA1A 1541 44 69
MUTYH 1533 27 55
FANCA 1531 12 51
WRN 1531 7 28
NOTCH1 1521 29 45
DNAH5 1498 11 44
FBN2 1488 25 49
MYO7A 1468 28 65
SYNE2 1463 8 26
KMT2D 1448 22 86
CDH23 1437 32 55
PDGFRA 1404 12 21
MET 1391 24 33
MSH3 1391 7 12
CHD7 1362 29 82
ANK2 1337 40 51
BAP1 1335 13 29
DST 1299 11 21
DNAH11 1285 9 35
COL4A5 1283 23 58
CACNA1C 1280 51 51
SMAD4 1277 42 63
FLNA 1272 49 59
SZT2 1262 12 32
SDHA 1255 22 38
RB1 1248 17 34
COL5A1 1245 22 44
KIT 1242 36 37
CACNA1H 1241 15 27
GAA 1239 18 61
MEN1 1229 22 46
BMPR1A 1228 18 42
MECP2 1227 37 86
LMNA 1193 76 80
SACS 1190 9 52
SPG11 1185 17 47
POLG 1183 47 69
KCNQ1 1177 44 69
HOXB13 1172 6 10
EYS 1169 14 46
RAD51C 1168 24 48
SCN1A 1160 39 57
COL1A1 1158 39 55
SCN2A 1151 32 61
SH3TC2 1133 20 44
PCDH15 1126 27 52
LOC102724058, SCN1A 1117 37 58
MRE11 1114 11 39
NRXN1 1107 20 42
COL6A2 1098 20 43
CASR 1093 22 36
TERT 1085 34 37
CNTNAP2 1071 18 44
KCNQ2 1054 25 60
RELN 1050 14 36
KIF1A 1048 24 52
DOCK8 1038 12 42
KCNT1 1017 16 39
RYR3 1013 8 17
GRIN2A 1012 20 57
PKP2 1012 36 52
SCN1A, SCN9A 1006 32 43
RAD51D, RAD51L3-RFFL 1003 14 34
FLCN 998 17 41
DIS3L2 995 4 16
ATP7B 993 7 61
CTNNA1 987 7 11
SPTAN1 974 22 44
COL12A1 971 12 26
PAH 971 10 60
AGL 970 9 40
COL6A1 964 13 36
MYH11 962 20 39
CEP290 961 38 67
COL7A1 947 29 45
MYLK 935 21 45
MYH6 932 46 45
DSG2 928 31 42
VWF 927 25 42
AGRN 925 4 26
CACNA1S 911 21 36
DYNC2H1 906 24 46
SLX4 899 11 30
FH 894 14 36
HSPG2 894 11 29
LYST 893 8 31
NSD1 887 22 53
AKAP9 886 29 35
RBM20 861 24 46
EGFR 856 38 27
CHD2 843 16 48
FANCM 837 12 23
COL2A1 830 49 61
NF2 826 16 40
PCNT 819 9 39
WNK1 816 10 26
CAPN3 815 18 48
COL1A2 811 34 47
MYO15A 807 13 46
SCN8A 807 35 50
COL5A2 798 18 33
FASN 798 5 9
ASPM 795 10 48
CDKN2A 795 28 33
DEPDC5 778 14 40
PRX 767 13 33
COL4A4 765 20 46
DSC2 762 24 44
POT1 759 8 11
BMPR2 753 18 28
DNAH1 751 9 13
NIPBL 749 14 51
ACADVL 746 8 45
MYH11, NDE1 744 20 42
EHMT1 743 12 48
KANSL1 743 12 41
LAMA4 734 22 35
CREBBP 731 34 62
NPC1 729 15 56
IGHMBP2 724 17 46
NPHP4 724 11 31
PCSK9 723 13 38
MYPN 718 24 41
RTEL1, RTEL1-TNFRSF6B 716 14 28
ACTN2 711 29 41
ELP1 708 6 26
LRBA 706 8 30
LOC107303340, VHL 702 14 41
RUNX1 693 19 31
KCNQ3 692 15 43
SDHB 688 25 46
SETX 685 21 39
ABCC9 684 30 41
ANKRD11 682 17 63
JAG1 682 16 41
PRKDC 681 6 14
NOTCH3 679 25 43
MFN2 676 19 42
FRAS1 671 9 34
NEB, RIF1 670 10 37
SOS1 668 27 49
GLDC 667 9 44
HCN4 666 25 26
WFS1 663 24 45
MBD5 661 20 48
GRIN2B 658 27 55
CDKL5 657 23 46
ZFYVE26 651 8 28
LOXHD1 650 11 39
JMJD1C 648 4 9
DNAH8 646 7 12
LRP2 645 10 34
PCDH19 643 22 39
COL4A3, MFF-DT 642 22 52
ANO5 640 22 43
ABCC8 638 21 45
INF2 634 14 26
ZEB2 626 14 51
CC2D2A 623 23 42
SCN10A 619 11 25
CUBN 618 9 27
ABCB1 615 20 12
GH-LCR, SCN4A 611 27 30
CRB1 610 23 47
MTOR 608 27 30
PRDM16 606 13 29
GLA, RPL36A-HNRNPH2 605 13 50
OTOF 602 12 42
COL11A1 601 23 40
ZNF469 598 7 26
EVC 597 10 32
ATRX 596 26 55
GATA2 592 12 28
HBB, LOC106099062, LOC107133510 592 307 50
SMAD3 592 15 40
PRKAG2 591 26 40
SLC37A4 588 10 28
SBF2 587 8 24
TCF4 587 17 63
ATP1A2 584 17 25
VCAN 584 7 16
SLC26A4 581 16 57
TGFBR2 580 26 45
MEFV 579 14 51
SUFU 579 17 26
SYNGAP1 578 19 57
LDB3 575 26 37
TRPV4 574 31 34
VCL 571 23 36
ADAMTS2 568 4 21
PLEKHG5 567 11 17
GJB1 563 15 38
CBS 560 13 45
PNKP 559 16 37
KIF1B 558 20 30
SPAST 558 11 45
FLNB 557 15 32
MED12 553 26 46
F8 552 14 30
TBC1D24 551 25 45
CDC73 550 14 22
CPLANE1 549 13 40
A2ML1 548 7 21
RP1 548 14 40
STXBP1 544 29 58
JUP 543 23 31
NTHL1 542 4 15
RP1L1 542 11 25
SLC2A1 542 24 43
IGF1R 541 10 27
ARID1B 540 28 71
DNMT1 540 15 26
LRP5 539 26 41
DNM2 538 19 31
MYOM1 538 12 13
CLCN1 536 15 34
MLH3 536 15 18
ABCC6 533 11 33
DOCK7 533 5 16
MEGF10 533 4 16
EPG5 532 6 34
RPGR 532 19 42
CTC1 530 7 26
GLI3 527 24 39
CBL 526 20 41
AOPEP, FANCC 525 12 30
TUBGCP6 524 6 24
ABCD1 523 12 46
TGFBR1 523 20 39
RANBP2 521 3 16
VHL 518 13 40
SCN11A 511 9 21
ACVRL1 510 12 32
CDKN1C 510 9 30
DES 510 30 47
SETD2 510 15 24
TPP1 510 13 46
EVC2 508 11 30
RPGRIP1L 508 17 30
SCN3A 508 15 25
ENG 506 14 38
POMT2 506 13 22
USH1C 503 18 38
AP5Z1 501 7 18
GALT 501 9 37
TNNT2 501 33 52
ATP7A 499 16 33
ATR 498 13 26
OTC 498 9 35
BRAT1 497 10 23
CHRNA4 497 12 31
MYH9 497 20 39
PCARE 497 11 29
SYNJ1 495 7 16
AARS1 494 13 34
FANCI 494 8 22
POMT1 494 18 32
CNGB1 493 8 34
SLC22A5 493 6 39
VPS13A 493 5 25
ALDH7A1 490 11 33
NPHP3, NPHP3-ACAD11 489 11 31
NTRK1 488 10 27
COL11A2 487 28 38
RAF1 487 29 45
TRPM4 486 28 31
CIITA 485 7 13
FREM2 482 12 30
CPS1 480 10 31
AHI1 479 15 45
NLRP12 479 7 26
GCK 478 17 35
NEBL 478 14 16
GALC 477 9 54
MYH2, MYHAS 477 9 27
NPHS1 475 11 41
PTPN11 475 55 75
LRPPRC 472 7 30
TMEM43 472 17 30
BAG3 469 23 34
IL17RA 469 4 9
WWOX 469 18 42
NOD2 468 13 28
CLN3 467 14 35
BRAF 465 73 67
TPM1 463 21 39
GUCY2D 462 20 41
MYH14 460 11 28
PLCB1 460 9 26
OPRM1 458 15 8
PIGO 458 8 25
GNPTAB 456 13 37
ABCB11 455 11 26
SNHG14, UBE3A 455 10 39
DCTN1 452 15 24
ARSA 451 22 49
CRPPA 451 11 21
MMUT 451 10 41
CYP2C19 449 20 10
ITPR1 449 17 45
ARSB 446 8 33
MPZ 445 28 31
TRDN 445 5 19
HMCN1 444 6 11
FKTN 441 19 29
LRSAM1 441 8 27
ATP1A3 440 21 39
IQSEC2 440 15 42
PNPLA6 438 18 29
GALNT12 436 7 9
FIG4 434 20 32
SMPD1 434 11 37
GNE 433 10 37
LPIN2 433 4 21
FKRP 432 20 38
NLRP3 431 15 29
TMEM127 429 9 25
OPA1 428 22 40
SGCD 428 19 28
UNC13D 426 4 21
KCNMA1 425 13 30
TRPM1 425 9 23
ACTC1, GJD2-DT 424 23 27
IMPG2 424 13 25
LAMA3 424 9 20
EP300 423 31 53
PYGM 422 8 37
DYRK1A 421 15 47
PKD2 421 13 34
SPG7 421 17 47
PLCG2 420 8 19
LZTR1 418 16 41
COL5A1, LOC101448202 417 16 22
MAN2B1 417 6 35
CHRNA2 416 10 25
COL4A1 416 22 45
FBXL4 416 8 34
GAN 416 7 24
PDE6B 416 19 33
PLOD1 416 9 20
SDHC 416 15 29
SPINK5 415 6 24
CEBPA 414 5 15
IFT140 414 14 28
LAMB2 414 9 27
SMCHD1 414 14 18
CACNA2D4 412 10 19
CNGB3 412 16 40
ITGA7 412 5 21
PEX6 412 17 42
SMARCB1 412 21 33
LARGE1 411 11 23
WDR62 409 15 35
DOK7 408 8 31
PRKN 408 12 38
SLC12A3 408 6 41
FGD4 407 5 20
MHRT, MYH7 407 35 47
GPC3 405 10 31
TBCEL-TECTA, TECTA 405 17 41
SKI 404 12 28
CCDC40 403 7 25
INSR 402 16 28
SPTBN2 401 10 31
PHEX 400 4 25
RPGRIP1 400 20 43
CDKN1B 398 7 27
ELN 398 15 26
MTR 398 13 22
OTOG 397 10 27
NOTCH2 396 13 39
EXT1 395 11 33
LRP4 393 9 16
NEXMIF 392 8 37
PDE6A 392 9 23
ADAMTS17 390 4 14
PIK3CA 390 77 49
POMGNT1, TSPAN1 390 19 34
TNNI3 390 22 43
CPT2 389 17 39
LAMP2 389 15 31
SLC12A6 389 7 26
DIAPH1 388 16 30
PIGN 388 9 31
KIF7 387 16 34
RMRP 387 8 9
LAMB3 386 9 27
DHCR7 385 11 51
TYK2 385 5 17
KMT2A 384 16 54
HNF1B 383 13 31
KIAA1549 383 3 5
RBP3 383 9 17
RIMS1 383 9 22
TG 383 11 28
AIRE 381 6 33
SIK1 381 7 19
GARS1 380 21 27
ITGB2 378 5 18
LRRK2 378 12 24
MED13L 378 22 52
ANK1 375 8 25
SDHD 375 21 39
PHOX2B 373 15 21
WT1 373 27 42
BTD 371 8 45
FANCC 371 10 33
ACADM 370 5 33
PEX1 370 18 48
SELENON 369 9 28
ATP13A2 367 10 26
ERCC4 367 16 30
HGSNAT 367 12 38
WHRN 367 15 23
OBSL1 366 7 22
BEST1 365 19 39
FREM1 365 13 27
IDUA 365 10 38
SPRED1 365 8 25
FOXG1 364 11 52
GLI2 364 23 36
PROM1 364 24 34
ALG13 363 13 33
HEXA 363 21 47
PSEN1 363 24 31
CDHR1 362 12 26
PRPH2 362 35 31
FGFR1 361 38 47
ABCC2 360 5 21
SMC1A 360 17 37
SPTA1 360 18 26
JAK3 359 14 28
QARS1 358 10 21
SPTLC2 357 6 18
CLN6 354 13 38
GRIN1 354 15 36
MFSD8 354 14 35
RAG1 354 17 26
OFD1 351 21 41
SLC6A8 350 11 42
GJB2 348 40 71
SLC2A10 348 10 31
INVS 347 4 23
MKS1 347 17 32
SOS2 346 6 24
WDR19 346 20 31
ALPL 345 15 41
ALS2 345 16 34
CACNA1F 345 18 32
ERCC6 345 15 33
CEP164 344 5 18
HBB, LOC107133510, LOC110006319 344 138 27
IFIH1 342 9 38
SH3BP2 342 3 16
ATP2A1 341 3 11
CTNS 341 13 36
EFHC1 341 9 19
DBT 340 6 28
IFT172 340 15 22
AGXT 339 5 32
BBS10 339 12 44
TCIRG1 339 6 32
GDAP1 338 20 34
HLCS 338 4 25
KCNJ2 338 23 32
FAT4 337 12 26
MAP2K2 337 20 34
PAX6 337 30 38
PRKAR1A 337 11 20
RBFOX1 337 12 27
COL9A1 336 13 21
LIFR 336 7 20
GABRA1 335 16 37
LOC100507346, PTCH1 335 17 28
PPT1 335 10 40
PITPNM3 333 8 15
TH 333 6 29
ASTN2, TRIM32 332 12 27
BICD2 332 13 27
CDON 332 12 18
BUB1B 331 8 16
PCCA 331 3 33
BIN1 330 3 16
PRICKLE1 330 9 29
SLC13A5 330 8 20
RPE65 329 19 40
SPATA5 328 4 25
BCKDHB 327 6 35
CDK5RAP2 327 8 34
NDRG1 327 5 22
RINT1 327 6 10
NEFL 326 16 25
SLC19A3 324 7 37
CTSD 323 9 23
KRIT1 323 11 26
PRPF8 323 10 23
ABCB4 322 10 25
CTNNA3 322 15 19
DAG1 322 8 20
DCLRE1C 322 9 21
GABRG2 322 18 29
MED25 322 10 20
MTM1 322 9 30
TTC21B 322 22 35
ANK3 321 8 22
CARS2 321 6 14
POLR3A 321 8 33
PTCH2 321 9 15
SLC26A2 321 16 33
CHAT 320 7 20
MYH3 320 21 34
TRIP11 320 6 13
BBS9 319 14 40
MYO6 319 14 27
TBX5 318 16 36
ABCA1 317 14 15
NEXN 317 23 32
AIP 316 10 17
HCN1 316 12 29
HNF1A 316 19 30
LOC107982234, WT1 316 15 23
SGCA 316 10 35
SMARCE1 316 8 14
ARFGEF2 315 9 28
PRICKLE2 315 9 14
TECPR2 315 7 18
CARD11 314 8 22
FGFR2 314 47 47
MT-CYB 313 24 11
OPA3 313 7 23
F5 312 19 24
KCNV2 311 12 29
CRTAP 310 4 21
ASS1 309 5 36
GLIS3 309 6 17
RHO 309 20 30
CRX 308 21 36
PC 308 5 27
TTC7A 308 4 19
ABAT 306 3 15
COL4A2 306 11 27
FGFR3 306 49 54
XRCC2 306 10 20
PIGG 305 4 14
TGM1 305 5 31
DOCK2 304 3 11
INPP5E 304 10 21
LAMC2 304 6 17
SLC25A22 304 9 21
C1QTNF5, MFRP 303 10 21
CASK 303 21 44
MERTK 303 8 33
STAT3 303 11 32
ALDH5A1 302 10 33
BBS2 302 15 40
CDK4 302 11 17
DUOX2 302 8 29
JPH2 302 15 26
PIEZO1 302 12 25
SLC6A1 302 12 30
CASQ2 301 14 31
CYP27A1 301 5 37
FANCD2, LOC107303338 301 8 25
NAGLU 301 12 38
PMM2 301 13 57
ADAR 300 11 29
MC1R 300 16 16
MT-ND5 300 11 11
TXNRD2 300 8 10
ZNF423 300 6 18
KCNB1 299 15 32
RAI1 299 9 39
TMEM67 299 25 43
PRRT2 298 14 32
TRAPPC11 298 7 21
HRAS, LRRC56 297 58 36
MTMR2 297 5 27
PCCB 297 4 33
SMARCA2 297 19 45
SCN4A 296 17 24
TJP2 296 11 27
HUWE1 295 14 43
SGSH 295 9 36
ADSL 294 6 28
CEP250 294 4 5
KCNA1 293 8 19
L1CAM 293 18 37
PDZD7 293 11 21
SNRNP200 293 10 24
TGFB2 293 14 35
ABCA3 292 11 23
GFPT1 292 6 16
GLB1 292 18 45
SCN1B 292 22 34
SLC12A5 290 5 15
DNM1 289 5 23
F9 289 18 21
LTBP2 289 18 20
RNF213 289 8 22
COQ8A 288 12 37
HNF4A 288 14 29
HSD17B4 288 10 36
NBEAL2 288 5 14
F11 287 12 26
GCDH 287 6 40
LMX1B 287 9 32
LOC101927870, RELN 286 13 25
MORC2 286 13 20
P3H1 286 6 21
WDR35 286 15 23
DNMT3B 285 6 20
ATP6V0A2 284 7 18
PLA2G6 283 14 39
PSAT1 283 6 11
EXT2 282 10 30
NEDD4L 282 9 23
CNGA3 281 12 32
MCCC1 281 5 21
THRB 281 8 17
TRIOBP 281 8 33
GALNS 280 6 29
PSTPIP1 279 4 14
BCOR 278 15 40
RAB3GAP2 278 13 29
XDH 278 7 16
DPYD 277 20 36
TTLL5 276 6 14
FANCA, ZNF276 275 6 31
HNRNPU 275 12 35
BTK 274 13 25
MUSK 273 8 15
NGLY1 273 8 22
PEX5 273 10 18
SATB2 273 15 45
ACVR2B 272 4 13
CPT1A 272 6 22
CR2 271 7 15
XPC 271 5 22
ACTA2 270 17 30
KBTBD13 270 4 18
CUL7 269 7 27
GPR179 269 7 20
SERPINA1 269 59 31
MYO3A 268 9 28
PRKG1 268 8 14
ACSF3 267 5 21
BSCL2, HNRNPUL2-BSCL2 267 19 32
CDH3 267 9 19
STIM1 267 9 19
GRN 266 11 28
LIG4 266 11 27
NEK1 266 15 27
ROR2 266 12 21
SH3PXD2B 266 4 15
AP3B1 265 7 21
ARX 265 16 36
ETFDH 265 10 25
EYA1 265 16 32
FAH 265 6 25
HCFC1 265 8 21
KRAS 265 63 55
TRIO 265 13 40
CYP4V2 264 9 23
FLVCR1 264 10 21
IVD 264 7 28
KIF5A 264 14 27
MAPT 264 17 20
MCPH1 264 9 32
TGFB3 264 18 26
AARS2, POLR1C 263 8 22
CNTN1 263 3 10
DTNA 262 14 24
MMAA 262 7 28
MVK 262 11 26
PNPLA2 262 4 15
CDKL5, RS1 261 14 40
FANCG 261 6 23
MT-ATP6 261 22 18
SMARCAL1 261 6 28
ASL 260 4 32
BCKDHA 260 6 38
CHST3 260 6 17
COLQ 260 5 24
DNAJC5 260 6 12
GNPTG 260 4 19
MCCC2 260 4 22
STXBP2 260 5 23
CACNB4 259 11 13
ENPP1 259 12