ClinVar Miner

Variants by gene

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Gene type:
ClinVar version:
Total genes and gene combinations: 24760
Total variants: 511257
Total conditions: 12562
Total submitters: 1282
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Filter Gene or gene combination Variants Conditions Submitters
​intergenic 12585 308 73
TTN 11300 63 56
BRCA2 10417 58 110
BRCA1 7360 36 97
APC 5512 61 58
TSC2 3896 31 46
NF1 3884 45 55
ATM 3882 19 49
MSH6 3753 31 52
MSH2 3183 33 52
FBN1 2811 52 58
POLE 2556 19 31
LDLR 2548 9 54
MLH1 2543 21 55
PALB2 2430 31 48
ATM, C11orf65 2288 21 58
DMD 2169 37 55
RYR1 2125 57 53
BRIP1 2024 20 39
PMS2 1963 22 49
SYNE1 1899 16 29
PLEC 1835 13 22
CDH1 1731 26 45
RYR2 1730 39 51
TSC1 1580 25 34
CHEK2 1551 33 50
SMARCA4 1548 15 28
POLD1 1518 10 24
TP53 1516 89 64
BARD1 1512 10 29
CFTR 1445 19 46
PTEN 1440 55 61
MYBPC3 1431 31 54
MYH7 1409 54 61
DICER1 1405 17 17
NBN 1374 16 43
NEB 1374 11 27
SCN5A 1365 72 53
ALMS1 1269 6 36
RAD50 1239 8 25
USH2A 1232 23 53
KCNH2 1176 38 43
STK11 1165 23 37
DSP 1153 47 44
PKHD1 1126 12 42
COL6A3 1082 15 31
RECQL4 1069 11 21
MECP2 1047 28 57
MUTYH 1042 17 45
COL3A1 1028 24 39
DYSF 1026 17 35
KMT2D 1010 12 56
FBN2 986 21 36
PTCH1 981 24 36
NOTCH1 956 23 33
COL4A5 948 14 31
RET 944 46 50
ABCA4 920 30 41
VPS13B 909 13 47
APOB 895 14 37
POLG 877 36 38
AXIN2 876 11 20
FLNC 852 18 27
LAMA2 846 14 42
CACNA1C 844 31 37
SMAD4 844 30 45
CACNA1A 841 33 35
FLNA 840 39 35
KCNQ1 840 31 52
LMNA 821 60 56
ANK2 809 25 42
ALK 805 21 22
DYNC1H1 804 26 36
CHD7 790 14 51
DNAH5 790 9 27
RAD51C 786 13 29
BMPR1A 779 15 32
MRE11 776 12 30
BLM 775 4 29
BAP1 774 10 21
GAA 772 11 37
COL5A1 771 17 32
MYO7A 762 19 37
ADGRV1 755 13 37
DNAH11 755 6 16
MEN1 751 21 36
SYNE2 749 8 21
PAH 741 7 40
COL6A2 732 17 28
LOC102724058, SCN1A 732 28 34
PKD1 730 23 33
SCN1A 726 29 35
PDGFRA 717 10 13
COL1A1 716 29 35
WRN 704 6 19
NSD1 702 16 33
CDH23 688 18 33
KCNQ2 688 20 39
CNTNAP2 685 16 28
MET 682 17 25
RAD51D, RAD51L3-RFFL 679 9 23
NRXN1 678 14 32
SDHA 676 17 27
COL6A1 671 12 29
SACS 671 7 37
KIT 658 32 26
SCN2A 650 21 41
PCDH15 642 20 35
SH3TC2 642 12 23
MYH6 629 36 37
RB1 629 13 24
VWF 623 18 23
MYLK 620 19 36
SPTAN1 616 15 25
ASPM 605 7 28
PCNT 598 6 24
ATP7B 588 6 40
GRIN2A 586 14 40
NIPBL 581 12 32
PKP2 580 23 39
SPG11 567 12 32
FLCN 564 12 25
KCNT1 557 13 23
FANCA 554 7 32
CAPN3 553 10 31
MYO15A 552 9 31
BMPR2 546 14 22
KANSL1 544 7 23
CDKN2A 542 29 25
ZNF469 532 5 17
CACNA1H 528 13 19
CASR 528 17 25
DYNC2H1 521 18 28
KIF1A 520 20 32
SCN1A, SCN9A 517 27 29
COL5A2 516 15 26
RBM20 514 15 30
SCN8A 505 23 32
AKAP9 501 18 30
NPC1 501 11 37
FH 493 10 23
DSG2 489 21 30
TERT 488 25 23
AGL 487 7 28
WFS1 483 20 33
ZEB2 476 10 34
CDKL5 470 18 34
SOS1 469 23 32
SLC37A4 468 7 18
MYH11 464 18 31
OTOF 463 9 30
HSPG2 455 10 16
CACNA1S 454 19 27
COL1A2 453 26 28
JAG1 452 11 24
CREBBP 451 23 36
COL2A1 450 33 35
CEP290 448 27 40
ANO5 446 17 30
HBB, LOC106099062, LOC107133510 444 303 28
NPHP4 439 10 16
RELN 436 9 25
ACTN2 429 19 28
CHD2 429 9 27
SLX4 427 6 21
ABCC6 426 9 20
SLC26A4 426 12 34
GALT 423 8 21
ARID1B 422 18 40
DIS3L2 418 4 10
SDHB 418 17 33
MBD5 411 16 31
CYP2C19 410 19 7
DOCK8 405 8 28
GLA, RPL36A-HNRNPH2 403 10 33
OTC 403 9 25
GRIN2B 398 21 34
COL4A4 397 9 21
KCNQ3 397 9 28
NF2 396 11 27
ACADVL 395 6 28
EHMT1 391 9 27
FBXL4 391 7 19
LOC107303340, VHL 391 12 27
FRAS1 390 6 19
LAMA4 390 14 21
MYH11, NDE1 387 15 31
ABCC8 385 17 25
NEB, RIF1 385 10 26
CC2D2A 384 13 22
CBS 381 10 28
DSC2 380 21 34
ABCC9 379 23 31
DEPDC5 373 10 24
MED12 372 24 31
LOXHD1 371 8 24
MYPN 369 16 27
SETX 369 15 24
PCSK9 368 10 28
IGHMBP2 366 13 31
PTPN11 364 39 47
SLC2A1 362 20 31
TBC1D24 362 21 33
MEFV 360 10 34
RYR3 360 4 8
CBL 359 13 28
LYST 359 6 19
BRAF 356 55 44
CUBN 355 6 20
ATP1A2 354 12 18
COL11A1 354 14 21
PCDH19 354 12 25
SMAD3 354 12 30
HCN4 353 17 19
MYH9 353 13 22
EYS 350 12 29
PNKP 350 12 23
AGRN 349 4 19
SPAST 349 11 31
WNK1 347 8 17
TCF4 345 12 38
COL11A2 344 21 24
SNHG14, UBE3A 344 9 26
VCL 344 19 27
F8 343 9 17
ANKRD11 342 11 37
GLDC 341 8 29
DES 340 24 37
GCK 339 14 22
TGFBR2 339 22 36
RUNX1 337 10 16
NOTCH2 336 9 24
PRX 335 8 23
TGFBR1 335 12 29
ABCB11 334 8 16
TRPV4 334 24 19
AOPEP, FANCC 333 6 21
ARSB 333 7 21
LDB3 333 19 27
VHL 332 13 30
EVC 331 9 19
GLI3 331 18 25
RAF1 331 28 29
STXBP1 331 19 34
PRKAG2 329 18 30
MFN2 328 14 27
LRP2 327 8 23
GH-LCR, SCN4A 326 24 21
POMT1 324 14 21
TNNT2 323 28 35
POMT2 322 12 18
COL4A3, LOC654841 321 13 25
CPLANE1 321 9 26
RP1L1 321 7 13
ZFYVE26 321 8 22
EP300 319 23 31
JUP 318 17 22
PLEKHG5 315 7 12
ATRX 313 23 40
COL7A1 313 25 28
GNE 311 11 23
BTD 307 6 26
TPP1 307 10 32
NOTCH3 305 13 26
CHRNA4 304 8 21
DNAH1 304 7 7
PRDM16 303 6 12
SLC22A5 303 6 27
FLNB 301 14 19
ATP7A 300 12 19
OTOG 300 6 15
ABCC2 299 3 13
DST 299 5 13
MMUT 299 7 27
NPHS1 299 6 23
ARSA 298 19 27
COL12A1 296 9 13
EGFR 296 32 18
GJB2 296 34 46
IGF1R 296 4 10
FREM2 295 9 18
SMCHD1 295 9 11
SMPD1 294 8 25
ELP1 292 3 19
NPHP3, NPHP3-ACAD11 292 11 20
CLN3 291 9 21
CRPPA 291 10 17
OPA1 291 18 26
ACVRL1 290 10 26
MYH14 289 9 17
MYOM1 288 11 9
SGCD 287 16 23
TECTA 286 14 27
INF2 285 9 14
ALDH7A1 284 10 24
USH1C 284 12 21
SCN10A 283 9 17
TJP2 282 7 17
CLCN1 281 15 23
FASN 281 3 4
BAG3 280 16 26
WDR62 280 9 18
FKTN 279 15 21
AGXT 278 5 19
GALC 277 7 30
DHCR7 276 8 37
ADAMTS2 275 4 15
TPM1 275 19 29
DNAH8 272 5 7
DNM2 272 17 22
COL5A1, LOC101448202 271 12 18
FKRP 271 16 25
MAP2K2 271 16 25
NLRP3 271 13 23
SYNGAP1 271 13 37
HMCN1 269 6 8
NEBL 269 9 11
CDC73 268 12 17
LRPPRC 268 5 19
OFD1 268 15 22
POT1 267 7 7
PSEN1 266 20 18
ABCB4 265 10 16
ABCD1 265 8 29
ACADM 264 5 23
CDKN1C 263 8 16
LAMP2 263 11 20
RPGR 262 13 24
INSR 261 12 17
ACTC1, LOC101928174 260 19 21
SKI 260 8 20
PLOD1 258 9 19
DNMT1 257 12 18
EVC2 257 10 18
GNPTAB 257 12 23
POMGNT1, TSPAN1 257 16 19
SBF2 256 7 16
TRDN 256 5 13
FOXG1 254 9 33
CHRNA2 253 9 17
ENG 253 10 26
HEXA 253 17 30
LRRK2 253 8 16
PYGM 253 7 25
COL4A1 252 14 19
AARS 251 8 22
KIF1B 251 15 22
MTR 251 10 13
CPS1 250 9 20
ITPR1 250 12 27
NOD2 250 12 18
SZT2 250 9 21
RAI1 248 8 26
SPTA1 248 10 13
CCDC40 247 6 13
ELN 247 12 16
SUFU 246 15 17
WWOX 246 14 28
PAFAH1B1 244 7 22
RTEL1, RTEL1-TNFRSF6B 244 10 16
SPG7 244 13 32
TMEM43 243 13 22
LPIN2 242 3 18
DYRK1A 241 11 27
FANCI 241 4 15
FOXP1 241 14 34
NEXN 241 17 22
LAMA3 240 9 14
PEX6 240 12 22
SPTBN2 240 9 19
TNNI3 239 19 32
IL17RA 238 3 7
MHRT, MYH7 238 23 34
PIK3CA 238 68 32
PPT1 238 7 26
A2ML1 237 6 15
GATA2 235 10 15
SDHC 235 12 25
SDHD 235 17 31
FANCC 234 6 25
IQSEC2 234 12 23
KCNJ2 234 20 22
KIF7 233 11 20
SLC2A10 232 9 21
ADAMTS17 231 3 10
GLI2 231 14 25
MEGF10 230 4 12
PRKN 230 12 27
TRPM4 230 18 26
ITGA7 229 6 17
KRAS 227 56 34
KRIT1 227 8 16
TBX5 226 12 27
CYP27A1 225 4 23
MKS1 225 16 23
MLH3 223 12 11
SGCA 223 5 19
AP5Z1 222 6 12
ATP1A3 222 14 25
CNGB3 222 15 22
MTM1 221 6 17
TRPS1 221 10 18
CTNS 220 9 21
AHI1 219 10 27
FGFR1 219 34 30
TRIOBP 218 6 23
CLN6 217 10 27
PEX1 217 8 24
TMEM127 217 9 20
FGFR2 216 42 30
FGFR3 216 43 33
LARGE1 216 10 18
SERPINA1 216 57 21
SPRED1 216 5 19
FGD4 215 4 15
LAMB3 215 8 18
CPT2 214 13 24
CTC1 214 7 16
CTSD 214 8 20
DPYD 214 18 27
HSD17B4 214 8 25
MYO3A 214 5 17
SLC25A22 214 8 15
MYH2, MYHAS 213 6 18
SLC6A8 213 7 23
FREM1 212 8 16
HBB, LOC107133510, LOC110006319 212 134 16
RPGRIP1L 212 13 19
ALPL 211 12 26
BCKDHB 211 6 22
RBFOX1 211 10 22
ABCA1 209 13 11
BEST1 209 13 24
MYO6 209 10 18
ATP13A2 208 7 19
OPA3 208 6 14
SH3BP2 208 3 12
WT1 208 19 26
CDON 207 7 11
HBA1, LOC106804613 207 241 5
PRICKLE1 207 6 22
FANCM 206 10 18
MPZ 206 25 20
RANBP2 206 3 10
SLC26A2 206 14 20
GRIN1 205 14 25
PLCB1 205 9 22
SCN11A 205 5 11
ERCC6 204 12 17
GFAP 204 5 20
RMRP 204 7 8
THRB 204 8 14
TMEM67 204 22 27
GARS 203 12 18
HLCS 203 4 19
DAG1 202 6 13
HNF1A 202 14 20
LRBA 202 6 19
PHEX 202 4 16
PMM2 201 5 29
QARS 201 5 11
SLC12A6 201 6 19
MAN2B1 200 5 23
NTRK1 200 6 17
ANK3 199 6 14
BRAT1 199 6 14
DTNA 199 11 17
L1CAM 199 12 22
TGFB2 199 11 29
CRB1 198 16 30
JPH2 198 13 20
SPTLC2 198 5 14
DBT 197 6 18
DCTN1 197 11 16
ACTG1 195 7 18
FIG4 195 12 16
LRSAM1 195 6 18
ATR 194 9 16
SMC1A 194 12 27
CASK 193 15 33
CDK5RAP2 193 6 21
GAN 193 5 19
PIGO 193 4 15
SELENON 193 7 19
TRAPPC9 193 8 20
BBS10 192 11 30
CACNB2, NSUN6 192 13 23
COQ8A 192 9 24
EFHC1 192 7 16
GABRA1 192 13 22
IDUA 192 8 22
MEF2C 192 11 24
ARFGEF2 191 5 16
GABRG2 191 14 20
GRN 191 10 21
PKD2 191 11 20
ASS1 190 4 25
PRKDC 190 4 9
GCDH 189 5 24
INVS 189 4 13
SETD2 189 7 14
TMPO 189 9 18
CDKL5, RS1 188 14 26
CYP2C19, LOC110599570 188 14 4
EPCAM 188 10 23
MYH3 188 17 16
ERCC4 187 13 19
HNF4A 187 12 20
LRP4 187 7 10
SLC12A3 187 4 28
SMARCA2 187 11 24
CNGB1 186 7 18
SMARCB1 186 17 26
ABCG8 185 5 9
DIAPH1 185 8 19
GJB1 185 13 20
MFSD8 185 11 22
NLRP12 185 7 20
SCN1B 185 19 27
SETBP1 184 12 22
ASTN2, TRIM32 183 12 24
LZTR1 183 12 20
VCAN 183 5 9
F11 182 3 10
GPC3 182 7 25
KCNMA1 182 8 23
PCCB 182 4 22
TRIP11 182 7 10
WHRN 182 10 16
JAK3 181 12 20
SOS2 181 4 10
WDR35 181 13 17
CTNNA3 180 14 18
DNAJC5 180 6 9
DOK7 180 9 20
EYA1 180 13 22
MCPH1 180 6 19
TUBA1A 180 11 30
ALG13 179 10 20
FAT4 179 9 16
HRAS, LRRC56 179 53 22
MMACHC 179 8 28
TTC21B 179 13 20
AIRE 178 5 17
GLB1 178 16 29
KRT5 178 13 11
SGCB 178 5 11
ASXL1 177 11 21
CHST3 177 6 12
SPTB 177 11 13
TYR 177 23 26
VPS13A 177 5 14
HUWE1 176 8 21
MVK 176 8 17
PRPH2 176 22 19
CACNB4 175 11 12
LMX1B 175 6 18
TGFB3 175 12 20
AR 174 14 21
FAH 174 5 16
KCNE1 174 17 28
LAMC2 174 6 12
LRP5 174 23 24
PCARE 174 6 12
TCOF1 174 6 20
KCNA1 173 8 17
POLR3A 173 6 14
UNC13D 173 4 14
ABAT 172 3 13
ATP6V0A2 172 7 14
CASQ2 172 11 25
CDKN1B 172 7 20
COL4A2 172 8 14
DNAL1 172 5 7
PAX6 172 27 26
SNTA1 172 16 22
ARX 171 14 20
FOXP2 171 7 17
OBSL1 171 7 14
RAD50, TH2-LCR, TH2LCRR 171 4 9
LIFR 170 5 13
NAGLU 170 8 23
NEFL 170 11 15
PRKAR1A 170 10 14
CRX 169 13 21
CUL7 169 6 16
SRCAP 169 4 20
AARS2 168 7 12
OTOGL 168 6 15
PLA2G6 168 12 25
ACVR2B 167 3 11
CEBPA 167 8 12
CHD8 167 6 18
CIITA 167 6 9
EPG5 167 4 23
KCNJ11 167 20 19
LOC100507346, PTCH1 167 14 19
MED13L 167 11 34
PNPLA6 167 12 19
RAB3GAP2 167 9 16
LAMB2 166 7 19
MYLK2 166 8 17
ABCA3 165 10 13
BCKDHA 165 5 26
MMAA 165 7 20
TG 165 7 16
ENPP1 164 11 14
F5 164 14 13
TP63 164 18 19
XRCC2 164 8 13
ALS2 163 11 19
ANK1 163 6 15
CFTR, LOC111674472 163 11 22
PC 163 3 18
ADSL 162 4 19
CDK4 162 11 17
CEP152 162 9 16
GUCY2D 162 12 26
MC1R 162 11 11
RAG1 162 13 16
SGSH 162 6 21
SHANK3 162 15 28
TCIRG1 162 6 18
TH 162 5 18
GFPT1 161 4 12
GLIS3 161 6 12
SPINK5 161 5 17
PIGN 160 7 18
BCOR 159 12 28
BSCL2, HNRNPUL2-BSCL2 159 16 25
EDA 159 9 16
EXT1 159 9 16
HCFC1 159 6 16
LTBP4 159 4 12
NEXMIF 159 6 20
POLH 159 5 13
TRMU 159 7 13
TXNRD2 159 8 8
BTK 158 11 16
DCX 158 10 16
PRRT2 158 11 20
SLC19A3 158 5 25
TGM1 158 6 19
BBS2 157 12 28
CLN8 157 9 22
DNAAF1 157 5 15
FYCO1 157 4 9
SALL1 157 6 21
ALDH5A1 156 6 17
CSF1R 156 9 13
GDAP1 156 15 20
IVD 156 6 14
KMT2A 156 9 29
PCCA 156 3 20
TNFRSF1A 156 8 19
XPC 156 5 13
CRTAP 155 4 15
OCA2 155 11 21
ACTA1 154 15 18
ATP2A1 154 3 8
F9 154 14 13
HCN1 154 9 20
MAPT 154 14 14
PDE6B 154 12 19
ARHGAP31 153 4 7
BIN1 153 3 13
CDHR1 153 8 15
CSRP3 153 15 23
GAMT 153 5 17
HNF1B 153 8 17
ITGB2 153 4 10
SYNJ1 153 7 11
GALNS 152 6 19
MMAB 152 4 20
PEX5 152 8 11
RPE65 152 13 21
DOCK7 151 4 9
KBTBD13 151 4 12
KCNJ5 151 11 13
CCBE1 150 3 9
KCNB1 150 8 17
NPHP1 150 13 17
POGZ 150 10 21
RTTN 150 7 15
COL9A1 149 9 12
COL9A3 149 9 16
CPT1A 149 6 14
KCTD7 149 8 18
LAMC3 149 4 12
PHOX2B 149 13 15
RP1 149 11 23
RPGRIP1 149 13 31
SCN4A 149 18 20
DM1, DMPK, LOC107075317, LOC109461477 148 1 4
EMD 148 9 19
ACTA2 147 15 21
MLC1 147 5 18
SH3PXD2B 147 4 10
STAT3 147 9 21
WDR72 147 9 11
DNM1 146 5 15
FECH 146 3 9
NEK1 146 13 20
PRICKLE2 146 7 12
ADAMTS13 145 4 17
ALPK3 145 5 5
ASL 145 3 19
BICD2 145 9 18
MAP2K1 145 22 21
PEX26 145 7 15
SIK1 145 7 12
COL17A1 144 8 12
COL9A2 144 12 15
NKX2-5 144 23 19
PRKG1 144 8 12
ROR2 144 10 14
UMPS 144 8 10
CACNA2D4 143 6 10
GPR179 143 5 13
TTR 143 14 21
BBS9 142 8 25
IFT140 142 11 15
KCNJ10 141 11 15
MUC5B 141 4 3
SLC13A5 141 5 10
CYBB 140 9 18
DUOX2 140 6 16
FANCD2, LOC107303338 140 4 17
FLVCR1 140 6 12
JMJD1C 140 3 4
MTHFR 140 16 19
MTMR2 140 5 14
SLC25A13 140 7 15
TMC1 140 11 24
ACADS 139 3 15
FERMT1 139 3 7
G6PC 139 5 25
HGSNAT 139 7 23
ITGB4 139 6 10
PITPNM3 139 5 8
ROBO2 139 6 12
SCARB2 139 6 16
SEC63 139 3 9
TYK2 139 5 13
CTNNA1 138 4 4
GNAS 138 34 30
LOC101927055, TTN 138 13 16
SMAD9 138 5 7
TNXB 138 10 16
CHST6 137 4 6
COL18A1 137 6 23
CP 137 7 15
EGLN1 137 6 6