ClinVar Miner

Variants studied for amino acid metabolism disease

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 likely risk allele other not provided total
11594 9923 29408 33581 5271 10 1 1 518 83333

Gene and significance breakdown #

Total genes and gene combinations: 757
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele other not provided total
CACNA1A 184 93 980 1112 132 0 0 0 7 2450
GLDC 296 282 657 1093 65 0 0 0 4 2187
USH2A 340 582 744 186 93 0 0 0 4 1727
CPS1 145 184 391 1047 92 0 0 0 2 1724
ACADVL 310 381 598 686 32 0 0 0 2 1662
CRB1 310 151 498 725 34 0 0 0 1 1628
CHD2 179 78 620 685 81 0 0 0 4 1615
PAH 568 479 286 335 38 0 0 0 8 1357
PCCA 165 164 379 590 40 0 0 0 6 1226
SLC22A5 183 182 438 433 30 0 0 0 4 1102
CBS 151 193 301 530 52 0 0 0 6 1096
PCCB 143 154 341 515 18 0 0 0 16 1073
HCFC1 6 1 111 672 255 0 0 0 0 1032
TH 81 120 359 542 40 0 0 0 4 1031
IFT172 43 24 458 421 26 0 0 0 0 950
SLC6A8 95 55 187 503 123 0 0 0 10 934
EYS 159 280 445 84 68 0 0 0 0 926
MTR 57 31 199 574 66 0 0 0 0 914
CPT1A 77 91 215 503 33 0 0 0 25 879
HGSNAT 88 34 259 484 22 0 0 0 0 872
HLCS 89 110 265 430 50 0 0 0 0 865
ETFDH 149 154 232 362 21 0 0 0 0 827
RPE65 152 37 251 363 25 0 0 0 0 784
ACADM 228 212 203 267 36 0 0 0 2 780
ASL 125 146 152 420 36 0 0 0 3 778
MTRR 73 28 159 481 50 0 0 0 1 774
ADSL 55 29 502 181 31 0 0 0 3 773
PHGDH 73 28 256 429 24 0 0 0 0 762
ACSF3 106 110 185 404 48 0 0 0 0 759
MTHFR 136 54 162 413 38 0 0 0 3 742
ASS1 127 142 178 355 36 0 0 0 10 726
CTNS 116 89 197 324 60 0 0 0 7 723
MCCC1 117 95 252 305 26 0 0 0 1 720
SLC25A13 122 87 132 408 26 0 0 0 15 719
SLC6A1 70 54 222 307 78 0 0 0 17 714
DBT 92 89 222 311 55 0 0 0 0 712
DHTKD1 37 20 375 249 37 0 0 0 1 709
ABAT 21 23 313 291 70 0 0 0 1 688
IVD 79 119 182 334 38 0 0 0 0 680
BCKDHA 110 115 153 360 37 0 0 0 1 675
SLC7A7 87 82 209 332 22 0 0 0 4 671
ACAT1 142 108 145 316 35 0 0 0 0 670
BCKDHB 136 122 156 293 50 0 0 0 3 670
MCCC2 94 119 234 258 30 0 0 0 1 656
FAH 98 104 140 323 40 0 0 1 11 627
GCDH 186 158 115 276 12 0 0 0 10 625
AMT 76 82 188 317 13 0 0 0 3 608
OTC 150 99 137 216 44 0 0 0 0 603
SLC13A5 31 25 257 283 22 0 0 0 0 601
KCNB1 35 39 205 253 86 0 0 0 0 594
BTD 164 157 196 200 14 0 0 0 6 593
OCRL 64 28 106 312 47 0 0 0 32 567
NAGS 50 45 110 364 20 0 0 0 1 556
DLD 55 75 123 294 38 0 0 0 0 546
ALDH5A1 70 59 231 178 37 0 0 0 3 542
OAT 83 71 174 240 23 0 0 0 0 533
HGD 235 79 71 176 22 0 0 0 11 512
ALDH18A1 35 21 303 155 25 0 0 0 3 508
MMAA 81 59 179 201 22 0 0 0 16 508
CUBN 17 15 308 74 83 0 0 0 0 495
DHDDS 16 18 214 251 9 0 0 0 0 493
OPA3 8 15 287 146 36 0 0 0 5 484
GAREM2, HADHA 64 60 108 262 20 0 0 0 0 469
ARG1, MED23 75 58 144 207 8 0 0 0 1 462
DNM1 12 11 156 246 41 0 0 0 0 462
HMGCL 57 54 129 246 15 0 0 0 0 462
ETFA 38 47 124 262 20 0 0 0 0 460
GATM 16 13 223 192 23 0 0 0 3 451
CLPB 25 9 227 156 19 0 0 0 16 433
MMACHC 95 73 110 190 10 0 0 0 3 426
CRX 51 16 217 106 72 0 0 0 0 423
GAMT 58 45 171 191 11 0 0 0 7 421
HADHA 52 56 81 246 14 0 0 0 0 417
MMAB 61 39 153 177 36 0 0 0 12 416
LMBRD1 28 22 110 235 24 0 0 0 2 407
MLYCD 28 3 138 225 26 0 0 0 1 404
SLC25A15 51 34 126 189 27 0 0 0 8 398
MMUT 139 115 123 28 15 0 0 0 31 395
ACADS 43 77 208 105 24 0 1 0 4 390
GCH1 71 24 160 135 28 0 0 0 0 386
KCNA2 27 20 190 120 10 0 0 0 2 360
TAFAZZIN 45 47 142 141 10 0 0 0 0 358
EEF1A2 11 13 94 212 32 0 0 0 2 355
TAT 28 33 71 221 8 0 0 0 0 342
LIAS 20 8 151 123 11 0 0 0 4 308
PSAT1 28 9 150 117 16 0 0 0 0 307
RPGR 161 121 23 7 5 0 0 0 0 303
MMADHC 40 27 60 169 17 0 0 0 7 299
PRODH 21 6 115 125 47 0 0 0 0 291
HPD 22 9 59 195 25 0 0 0 0 289
ABCD4 18 10 116 112 33 0 0 0 0 279
CNGB1 28 35 168 27 39 0 0 0 1 275
ETFB 17 23 83 147 9 0 0 0 0 265
QDPR 27 16 82 130 19 0 0 0 0 264
SLC25A20 46 27 91 107 7 0 0 0 0 263
SERAC1 34 14 114 91 31 0 0 0 2 261
ACADSB 17 20 149 52 44 0 0 0 1 260
PCARE 23 18 151 23 49 0 0 0 0 260
HADH 13 11 79 148 11 0 0 0 0 250
AHCY 8 4 115 112 17 0 0 0 0 238
ALDH4A1 6 8 132 74 46 0 0 0 0 235
SLC3A1 43 27 127 47 17 0 0 0 0 233
PTS 58 49 54 103 7 0 0 0 0 227
SLC6A9 5 3 84 117 16 0 0 0 3 225
PDE6A 40 22 130 12 28 0 0 0 0 216
PDE6B 40 36 131 13 6 0 0 0 2 213
ARL6 27 9 77 99 4 0 0 0 0 211
HMGCS2 30 19 101 67 13 0 0 0 0 211
FAM161A 16 47 119 19 17 0 0 0 0 204
RHO 61 73 66 12 13 0 0 0 4 202
IBA57 26 9 86 69 9 0 0 0 0 196
ACAD8 21 15 113 48 15 0 0 0 1 194
RP1 50 41 78 20 15 0 0 0 0 190
SCN8A 33 67 61 5 10 0 0 0 38 187
IMPG2 20 7 134 10 15 0 0 0 0 185
IFT140 6 19 109 38 7 0 0 0 1 178
CDHR1 15 9 129 11 11 0 0 0 0 170
CERKL 29 62 77 12 15 0 0 0 0 168
ACAD9 25 64 59 23 19 0 0 0 0 165
ATP6V0A2 10 0 98 9 42 0 0 0 8 164
PRPF31 48 49 47 9 13 0 0 0 0 161
IFT172, KRTCAP3 11 7 74 68 7 0 0 0 0 160
PRPF8 14 9 87 24 30 0 0 0 1 159
AUH 17 7 81 52 9 0 0 0 0 157
PSPH 3 1 86 48 20 0 0 0 0 154
PROM1 24 9 103 3 13 0 0 0 3 152
ABCA4 73 45 25 0 20 0 0 0 3 149
CA5A 11 5 66 59 13 0 0 0 4 148
NECAP1 3 1 77 64 3 0 0 0 0 147
ALDH5A1, GPLD1, LOC129995978 18 2 68 56 3 0 0 0 0 146
RBP3 7 5 120 7 9 0 0 0 2 144
HIBCH 20 21 56 43 16 0 0 0 0 143
EYS, PHF3 43 60 56 9 3 0 0 0 0 142
PRPH2 25 28 54 16 35 0 0 0 1 140
IFT172, LOC126806173 9 3 68 56 5 0 0 0 1 138
GAMT, LOC130062945 25 15 59 49 1 0 0 0 1 137
MERTK 29 23 62 10 17 0 0 0 0 135
GLUD1 11 5 73 42 14 0 0 0 0 133
TYR 76 60 18 6 3 0 0 0 4 131
GCDH, LOC117125594 24 24 25 63 7 0 0 0 0 129
SNRNP200 11 10 75 24 17 0 0 0 0 127
NR2E3 14 17 68 24 10 0 0 0 0 121
CD320 1 1 65 37 19 0 0 0 0 120
HAL 0 0 92 12 11 4 0 0 0 119
SLC7A9 24 17 64 12 13 0 0 0 0 119
BBS2 19 9 61 26 7 0 0 0 0 118
SLC1A1 2 1 89 6 19 0 0 0 0 117
MAOA 6 1 47 47 13 0 0 0 0 114
DNAJC19 10 8 46 43 5 0 0 0 1 110
ALDH6A1, BBOF1 7 0 58 15 29 0 0 0 0 106
HGSNAT, LOC130000316 6 3 21 68 3 0 0 0 0 101
DNM1, LOC113839516 2 8 37 45 8 0 0 0 0 99
IFT140, LOC105371046 12 12 51 23 5 0 0 0 0 99
TTC8 6 23 58 10 3 0 0 0 0 99
SLC1A3 3 0 46 7 45 0 0 0 0 98
WWOX 25 14 30 1 30 0 0 0 1 98
MCEE 5 3 30 54 9 0 0 0 3 93
NFU1 4 5 50 29 9 0 0 0 0 92
PPM1K 1 0 55 26 9 0 0 0 0 90
CNGA1, LOC101927157 23 16 47 4 6 0 0 0 1 89
BCKDK 6 2 31 43 6 0 0 0 0 88
SEMA4A 3 0 56 20 14 0 0 0 0 87
LRAT 1 2 72 4 7 0 0 0 0 86
TOPORS 8 3 53 13 13 0 0 0 1 86
RP2 22 17 29 7 12 0 0 0 0 85
TULP1 18 17 46 1 7 0 0 0 0 85
PCBD1 11 5 17 52 4 0 0 0 2 84
SLC6A19 7 8 31 30 9 0 0 0 0 84
ACADVL, LOC130060113 11 11 25 42 4 0 0 0 0 79
APRT 54 8 17 5 1 0 0 0 6 79
MMAB, MVK 11 8 22 39 8 0 0 0 1 79
ACSF3, LOC125177393 7 9 17 46 5 0 0 0 0 78
IMPDH1 6 5 47 14 9 0 0 0 0 78
LOC126861615, PAH 34 27 22 13 1 0 0 0 1 78
CLPB, LOC130006336 2 1 47 23 3 0 0 0 0 76
IFT172, LOC126806174 6 1 30 40 2 0 0 0 0 76
AMT, NICN1 14 9 37 23 2 0 0 0 0 74
LOC111413029, TAT 3 8 10 54 0 0 0 0 0 74
CFAP418 7 2 52 17 10 0 0 0 0 73
AIPL1 2 3 49 5 15 0 0 0 0 71
PRPF6 2 1 44 8 15 0 0 0 0 70
PREPL, SLC3A1 21 7 34 13 3 0 0 0 0 68
LOC126862422, MLYCD 3 2 22 39 3 0 0 0 0 65
LOC130059554, MLYCD 12 2 19 34 2 0 0 0 0 65
GCH1, LOC130055692 11 0 25 22 7 0 0 0 0 63
LOC129992304, QDPR 5 8 19 30 4 0 0 0 0 62
CYGB, PRCD 5 2 47 2 6 0 0 0 0 61
GRIN2D 6 8 43 4 2 0 0 0 1 61
CPT1A, LOC126861244 8 8 14 29 2 0 0 0 1 58
RP1L1 12 9 8 7 23 0 0 0 0 58
ACADVL, DLG4 3 7 31 14 4 0 0 0 0 57
LOC129930446, MMACHC 23 11 14 18 0 0 0 0 0 57
RLBP1 6 4 41 4 3 0 0 0 0 57
CTH 4 1 42 6 4 0 0 0 0 56
SAG 6 1 37 4 8 0 0 0 0 56
CACNA1A, LOC130063717 0 0 34 22 0 0 0 0 0 55
KLHL7 6 4 29 10 9 0 0 0 0 55
LOC121815974, OAT 10 9 8 31 1 0 0 0 0 55
CLPB, LOC126861258 7 2 24 22 1 0 0 0 4 54
EEF1A2, LOC132090595 1 0 25 23 3 0 0 0 0 52
GCDH, LOC126862860, SYCE2 10 11 19 22 3 0 0 0 2 51
POMGNT1, TSPAN1 12 6 24 2 8 0 0 0 1 51
SPATA7 9 0 34 0 8 0 0 0 0 50
GATM, LOC130056991 1 1 20 26 3 0 0 0 0 49
OFD1 6 0 17 22 3 0 0 0 0 48
SPR 11 6 29 0 2 0 0 0 0 48
GCSH 10 1 20 11 6 0 0 0 0 47
ROM1 1 0 33 9 6 0 0 0 0 47
GUCA1B 1 0 29 6 12 0 0 0 0 46
ACAD9, CFAP92 6 16 17 6 6 0 0 0 0 45
BEST1 7 1 26 4 8 0 0 0 0 45
LOC122152296, USH2A 12 13 19 4 1 0 0 0 0 44
CACNA1A, LOC126862864 5 4 19 16 1 0 0 0 1 43
CERKL, ITGA4 2 2 31 2 7 0 0 0 0 43
CHD2, LOC126862230 5 0 13 24 1 0 0 0 0 43
LOC130064709, OPA3 2 4 17 20 3 0 0 0 1 43
NRL 7 5 18 6 8 0 0 0 0 43
LOC130006765, PTS 9 10 10 21 0 0 0 0 0 42
SLC1A2 4 6 26 1 6 0 0 0 0 42
PRPF3 6 1 24 5 7 0 0 0 0 41
HPD, LOC126861662 4 1 5 29 3 0 0 0 0 40
IFT43 1 1 24 12 3 0 0 0 0 40
AARS1 11 3 17 6 1 0 0 0 2 39
ADK 2 3 22 5 8 0 0 0 0 39
AUH, LOC130002059 4 0 21 11 3 0 0 0 0 39
IDH3B 3 0 33 1 2 0 0 0 0 39
MAK 10 15 13 1 2 0 0 0 0 39
RGR 2 3 30 0 7 0 0 0 0 39
CLRN1 13 23 4 0 0 0 0 0 1 38
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 0 0 38
ALDH5A1, LOC129995978 5 2 17 14 1 0 0 0 0 37
ARG1 7 6 12 12 3 0 0 0 0 36
FAH, LOC112272621 4 6 3 24 2 0 0 0 0 36
LOC130059555, MLYCD 4 2 10 21 1 0 0 0 0 36
CIZ1, DNM1 2 3 14 14 3 0 0 0 0 35
HCN1 10 6 17 4 0 0 0 0 1 34
LOC126860392, RP1 6 8 14 4 6 0 0 0 0 34
CACNA1A, LOC126862865 3 0 6 21 3 0 0 0 0 32
GCSH, LOC130059495 1 1 19 9 4 0 0 0 0 32
CA4 1 0 15 9 7 0 0 0 0 31
PYCR1 16 7 5 1 2 0 0 0 1 31
DNM1, LOC130002698 2 1 10 15 2 0 0 0 0 30
HCFC1, LOC130068842 0 0 4 14 12 0 0 0 0 30
UNC119 0 0 12 4 14 0 0 0 0 30
CACNA1A, LOC126862866 2 0 8 19 0 0 0 0 0 29
KIAA1549 5 1 3 9 11 0 0 0 0 29
ZNF513 1 1 25 2 0 0 0 0 0 29
GPR143 18 7 2 1 1 0 0 0 0 28
PDE6G 2 0 15 3 8 0 0 0 0 28
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 27
LOC126861440, NECAP1 0 1 12 13 1 0 0 0 0 27
SLC1A4 10 8 9 0 1 0 0 0 0 27
BOLA3 4 4 19 2 0 0 0 0 0 26
ABHD14A-ACY1, ACY1 8 4 16 0 0 0 0 0 0 25
AASS 11 6 7 1 0 0 0 0 0 24
DNM1, LOC130002699 1 0 11 9 3 0 0 0 0 24
GPHN, RDH12 7 6 7 1 3 0 0 0 0 24
GPHN, RDH12, ZFYVE26 4 2 15 2 1 0 0 0 0 24
GRID2 10 3 9 0 2 0 0 0 0 24
IFT140, LOC126862260 2 1 13 6 2 0 0 0 0 24
NPHP3-ACAD11, UBA5 15 7 4 0 1 0 0 0 0 24
CC2D2A 6 2 12 3 0 0 0 0 0 23
CEP290 12 3 8 0 0 0 0 0 0 23
RIC3, TUB 2 1 15 0 6 0 0 0 0 23
GRM1 5 0 5 7 5 0 0 0 0 22
SLC38A8 8 8 6 1 1 0 0 0 0 22
DHTKD1, LOC130003343 1 0 14 6 0 0 0 0 0 21
LOC129998833, SLC25A13 2 3 12 7 0 0 0 0 1 21
LOC130055323, SLC7A7 3 4 5 10 1 0 0 0 0 21
SLC6A17 2 0 12 2 5 0 0 0 0 21
TIMM50 8 2 5 2 4 0 0 0 0 21
BEST1, FTH1 1 0 9 6 3 0 0 0 0 19
LOC129934069, SPR 1 3 14 1 2 0 0 0 0 19
PMPCB 5 3 9 1 1 0 0 0 0 19
SLC6A20 0 0 18 1 0 0 0 0 0 19
ABCA4, LOC126805793 7 4 4 0 2 0 0 0 0 17
GGACT, PCCA 5 0 8 4 0 0 0 0 0 17
GUCA1A, GUCA1B 0 0 0 0 17 0 0 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 0 0 17
ALDH4A1, LOC120893116 0 0 9 6 3 0 0 0 0 16
CLN3 8 6 3 0 0 0 0 0 0 16
DHX38 2 2 6 1 7 0 0 0 0 16
DNASE1L1, TAFAZZIN 3 2 5 6 1 0 0 0 0 16
FAM161A, LOC129933843 0 4 9 2 1 0 0 0 0 16
FGF12 1 3 10 1 2 0 0 0 0 16
APRT, GALNS 0 0 2 7 6 0 0 0 0 15
ARHGEF18 5 2 8 0 0 0 0 0 1 15
CFAP418, LOC130000784 2 0 11 2 1 0 0 0 0 15
DNAJC12 13 1 1 0 0 0 0 0 0 15
FSCN2 1 0 6 5 3 0 0 0 0 15
GABRB1 3 5 5 1 2 0 0 0 0 15
GLUD1, SHLD2 0 0 9 6 0 0 0 0 0 15
HK1 2 4 3 1 7 0 0 0 0 15
LIPT1, MITD1 6 4 4 0 2 0 0 0 1 15
LOC129934004, NFU1 0 0 8 6 2 0 0 0 0 15
RP9 1 0 6 1 8 0 0 0 0 15
CERKL, LOC129935215 1 4 10 2 0 0 0 0 0 14
LOC129994569, MIR3936HG, SLC22A5 2 1 5 2 6 0 0 0 0 14
MAF, WWOX 1 1 4 1 8 0 0 0 0 14
REEP6 5 0 2 0 7 0 0 0 0 14
UROC1 4 0 3 4 3 0 0 0 0 14
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 0 0 13
LOC126806368, MMADHC 0 1 2 8 2 0 0 0 0 13
LOC129938008, MCCC1 0 2 6 3 3 0 0 0 0 13
LOC130055324, SLC7A7 3 3 3 4 0 0 0 0 0 13
MECR 8 0 2 0 3 0 0 0 2 13
AGBL5 3 3 5 1 1 0 0 0 0 12
LOC130068202, RP2 5 1 5 2 0 0 0 0 0 12
SNX17, ZNF513 0 0 11 0 1 0 0 0 0 12
ALDH4A1, LOC129929550 1 1 6 4 1 0 0 0 0 11
CERKL, LOC129935214 3 4 5 1 1 0 0 0 0 11
HADH, LOC129992931 0 0 7 0 4 0 0 0 0 11
IDH3A 9 2 2 0 0 0 0 0 0 11
PCDH19 0 10 1 0 0 0 0 0 0 11
SLC36A2 0 0 0 9 1 1 0 0 0 11
BBS1, ZDHHC24 6 4 1 0 0 0 0 0 0 10
CACNA1F 4 2 3 1 0 0 0 0 0 10
CTNS, LOC130059980 0 0 6 1 3 0 0 0 0 10
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 0 0 0 0 10
FLAD1 9 0 0 1 0 0 0 0 0 10
HMGCS2, LOC122094910 2 0 8 0 0 0 0 0 0 10
RPGRIP1 6 4 0 0 0 0 0 0 0 10
SLC7A14 4 0 3 3 2 0 0 0 0 10
AHI1 4 4 1 0 0 0 0 0 0 9
ASL, LOC129998526 1 0 0 7 1 0 0 0 0 9
ASS1, LOC130002809 0 0 7 1 1 0 0 0 0 9
ATP6V0A2, LOC130009117 0 1 6 1 1 0 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 9
IMPDH1, LOC129999258 1 0 8 0 1 0 0 0 0 9
ISCA2 3 2 5 0 0 0 0 0 3 9
LOC113875008, OCRL 0 0 1 8 0 0 0 0 0 9
LOC129933377, ZNF513 0 0 8 1 0 0 0 0 0 9
LOC130009616, SLC25A15 0 0 7 1 1 0 0 0 0 9
GAMT, NDUFS7 1 0 0 3 4 0 0 0 1 8
INS, INS-IGF2, TH 1 0 0 2 5 0 0 0 0 8
LOC130004020, PCBD1 0 1 2 5 0 0 0 0 0 8
LOC130055387, NRL 2 2 4 0 1 0 0 0 0 8
LOC130060555, UNC119 0 0 6 1 1 0 0 0 0 8
MYO7A 2 3 3 0 0 0 0 0 0 8
SARDH 0 1 1 1 1 4 0 0 0 8
ALMS1 4 3 0 0 0 0 0 0 0 7
CNGA1 0 0 6 0 1 0 0 0 0 7
FLVCR1 4 1 2 0 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 0 0 0 7
HSERVPRODH, PRODH 2 0 2 3 0 0 0 0 0 7
HTRA2 1 1 2 2 1 0 0 0 0 7
LOC130056226, SPATA7 0 0 6 0 1 0 0 0 0 7
POMGNT1 1 0 5 0 1 0 0 0 0 7
TTLL5 6 1 0 0 0 0 0 0 0 7
ACAD9, LOC126806807 0 2 4 1 0 0 0 0 0 6
APRT, LOC130059760 4 2 0 0 0 0 0 0 0 6
ARL2BP 5 1 0 0 0 0 0 0 0 6
ARL3 3 0 3 0 1 0 0 0 0 6
ATP6V1A 2 1 2 1 0 0 0 0 0 6
CACNA1A, LOC108663985 0 0 0 3 3 0 0 0 0 6
GUCY2D 2 3 1 0 0 0 0 0 0 6
HPD, LOC130009013 0 0 6 0 0 0 0 0 0 6
RCBTB1 0 4 2 0 0 0 0 0 0 6
ABAT, PMM2, TMEM186 0 0 4 0 0 0 0 0 1 5
ACADL 0 0 5 0 0 0 0 0 0 5
ADGRV1 0 2 3 0 0 0 0 0 0 5
ATP6V0A2, LOC126861666 0 1 3 0 1 0 0 0 1 5
CFAP410 2 2 1 0 0 0 0 0 0 5
CUBN, LOC126860871 0 1 2 0 2 0 0 0 0 5
CUBN, LOC129390143 0 0 4 0 1 0 0 0 0 5
GLUD1, LOC130004254 0 0 1 4 1 0 0 0 0 5
LOC112806037, MERTK 3 0 2 0 0 0 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 0 0 0 5
LOC129993163, MMAA 0 0 5 0 0 0 0 0 0 5
LOC130001482, SLC1A1 0 0 2 3 0 0 0 0 0 5
NEK2 1 0 2 1 1 0 0 0 0 5
PRPF4 2 0 3 0 0 0 0 0 0 5
SUGCT 3 1 2 0 0 0 0 0 1 5
​intergenic 0 2 2 0 0 0 0 0 0 4
ABCA4, LOC126805794 3 1 1 0 0 0 0 0 0 4
ACADM, LOC129930773 0 0 0 4 0 0 0 0 0 4
ACADVL, DVL2 2 4 0 0 0 0 0 0 0 4
ADAM9 4 0 0 0 0 0 0 0 0 4
ADK, LOC102723439 1 1 0 1 2 0 0 0 0 4
BBS1 2 1 2 0 0 0 0 0 0 4
BBS4 2 1 1 0 0 0 0 0 0 4
CDH23 1 2 1 0 0 0 0 0 0 4
CEP78 4 0 0 0 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 0 0 0 4
CNGB3 1 0 2 0 0 0 0 0 1 4
DNM1, LOC130002697 0 0 0 4 0 0 0 0 0 4
GLRX5 3 0 1 0 0 0 0 0 0 4
GNAT1 2 0 2 0 0 0 0 0 0 4
GUCA1A, GUCA1ANB-GUCA1A 1 3 0 0 0 0 0 0 0 4
HADHA, HADHB 0 0 1 2 1 0 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 0 0 0 4
IMPG1 2 1 1 0 0 0 0 0 0 4
INS, TH 0 0 1 3 3 0 0 0 0 4
KIZ 1 0 0 3 0 0 0 0 0 4
LCA5 4 0 0 0 0 0 0 0 0 4
LOC114803470, SCN8A 0 0 3 1 0 0 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 0 4
LOC126863090, PRPF6 0 0 3 0 1 0 0 0 0 4
LOC129999056, PMPCB 0 1 3 0 0 0 0 0 0 4
MMACHC, PRDX1 3 0 1 0 0 0 0 0 0 4
OCA2 0 4 0 0 0 0 0 0 0 4
PANK2 3 0 1 0 0 0 0 0 0 4
PRPF31, TFPT 2 1 1 0 0 0 0 0 0 4
RAX2 4 0 0 0 0 0 0 0 0 4
SMIM27, TOPORS 0 0 2 1 1 0 0 0 0 4
VPS13B 3 0 0 0 1 0 0 0 0 4
ZNF408 2 1 2 0 0 0 0 0 0 4
ASS1, LOC110121061 0 0 0 3 0 0 0 0 0 3
BBS12 0 2 1 0 0 0 0 0 0 3
CABP4 1 2 0 0 0 0 0 0 0 3
CHM 2 1 0 0 0 0 0 0 0 3
CNPY3-GNMT, GNMT 3 0 0 0 0 0 0 0 0 3
CTNS, LOC130059980, LOC130059981 3 0 0 0 0 0 0 0 0 3
CYP4V2 2 1 0 0 0 0 0 0 0 3
DCT 0 3 0 0 0 0 0 0 0 3
DHX38, LOC126862391 0 0 1 0 0 0 0 0 2 3
ECHDC1 0 3 0 0 0 0 0 0 0 3
FAH, LOC130057734 0 0 1 0 2 0 0 0 0 3
GCH1, LOC130055688 0 0 0 2 1 0 0 0 0 3
GLDC, LOC130001539 0 0 2 1 0 0 0 0 0 3
GRIN2D, LOC130064855 0 0 2 1 0 0 0 0 0 3
HGSNAT, POMK 1 0 2 0 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 0 0 3
HTRA2, LOC129934143 1 0 2 0 0 0 0 0 0 3
IMPDH1, LOC107986845 0 0 3 0 0 0 0 0 0 3
KIZ, LOC130065509 2 0 1 0 0 0 0 0 0 3
KYNU 1 1 0 0 1 0 0 0 0 3
LOC126806272, SNRNP200 0 0 1 1 1 0 0 0 0 3
LOC129998225, RP9 0 1 1 1 0 0 0 0 0 3
LOC129998495, PSPH 0 0 3 0 0 0 0 0 0 3
NAGS, PYY 0 2 1 0 0 0 0 0 0 3
PHYH 2 2 0 0 0 0 0 0 0 3
PITPNM3 0 0 2 1 0 0 0 0 0 3
RIMS1 1 0 2 0 0 0 0 0 0 3
UQCRFS1 3 0 0 0 0 0 0 0 0 3
ACBD5 0 0 2 0 0 0 0 0 0 2
ADAMTS18 0 0 1 0 1 0 0 0 0 2
ALDH4A1, MIR4695 0 0 0 2 1 0 0 0 0 2
ALDH6A1 0 0 2 0 0 0 0 0 0 2
AMN 1 0 1 0 0 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 0 0 0 2
ARSA 0 0 0 0 2 0 0 0 0 2
ASCL1, PAH 0 0 1 1 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 0 0 0 2
BBS7 1 1 0 0 0 0 0 0 0 2
BCAT2 2 0 0 0 0 0 0 0 0 2
BOLA3, TET3 0 0 2 0 0 0 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 0 0 0 2
CACNA2D4 2 0 0 0 0 0 0 0 0 2
CCT6A, CHCHD2, PHKG1, PSPH, SUMF2 0 0 2 0 0 0 0 0 0 2
CDH3 0 2 0 0 0 0 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 0 0 0 2
CLCC1 1 0 0 0 0 0 0 0 1 2
CNNM4 0 0 2 0 0 0 0 0 0 2
CTH, LOC129930756 0 0 1 1 0 0 0 0 0 2
DGCR6, PRODH 1 0 1 0 0 0 0 0 0 2
EEF1A2, KCNQ2 0 0 2 0 0 0 0 0 0 2
EEF1A2, PPDPF 0 0 2 0 0 0 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 0 0 0 2
EYS, LOC132089416 2 0 0 0 0 0 0 0 0 2
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308 1 0 1 0 0 0 0 0 0 2
GLDC, LOC113839554, LOC126860573, LOC130001537 2 0 0 0 0 0 0 0 0 2
GLDC, LOC130001538 1 0 1 0 0 0 0 0 0 2
GPR179 0 0 2 0 0 0 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 0 0 0 2
HKDC1 0 1 0 0 1 0 0 0 0 2
HKDC1, LOC126860950 0 1 1 0 0 0 0 0 0 2
HPS4 2 0 0 0 0 0 0 0 0 2
HTRA2, LOXL3 2 0 0 0 0 0 0 0 0 2
IQCB1 0 2 0 0 0 0 0 0 0 2
ISCA1, LOC130001967 1 0 1 0 0 0 0 0 1 2
KIZ, LOC130065507 2 0 0 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 0 1 0 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 0 0 0 2
LOC129933376, ZNF513 0 0 2 0 0 0 0 0 0 2
LOC130068098, RPGR 1 1 0 0 0 0 0 0 0 2
LURAP1L, TYRP1 1 1 0 0 0 0 0 0 0 2
MFSD8 0 1 1 0 0 0 0 0 0 2
NDUFA3, PRPF31, TFPT 2 0 0 0 0 0 0 0 0 2
NMNAT1 2 0 0 0 0 0 0 0 0 2
NPHP4 0 2 0 0 0 0 0 0 0 2
NRL, PCK2 0 0 2 0 0 0 0 0 0 2
OPA1 0 0 2 0 0 0 0 0 0 2
OTC, RPGR 1 0 1 0 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 0 0 2
RAB28 1 1 0 0 0 0 0 0 0 2
RBFOX1 0 2 0 0 0 0 0 0 0 2
SAMD11 0 0 2 0 0 0 0 0 0 2
SCN2A 0 0 0 0 0 0 0 0 2 2
SLC24A1 2 0 0 0 0 0 0 0 0 2
SRGAP2 0 2 0 0 0 0 0 0 0 2
TDO2 2 0 0 0 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 0 0 2
TUB 0 0 2 0 0 0 0 0 0 2
USH1C 2 0 0 0 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 0 0 0 2
VWA8 1 0 0 0 1 0 0 0 0 2
WDR19 0 0 2 0 0 0 0 0 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0