ClinVar Miner

Variants studied for autosomal recessive disease

Included ClinVar conditions (964):
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 association risk factor other not provided total
8101 5137 26868 7149 4080 6 7 5 1 734 49575

Gene and significance breakdown #

Total genes and gene combinations: 807
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other not provided total
TTN 41 257 3255 1276 647 0 0 0 0 4 5471
ATM 378 200 1649 455 62 0 0 0 0 0 2613
ATM, C11orf65 233 144 992 243 24 0 0 0 0 2 1566
CFTR 437 173 356 75 34 0 0 0 0 373 1201
PLEC 9 5 707 229 153 0 0 0 0 2 1104
ALMS1 78 122 634 213 67 0 0 0 0 2 1101
NBN 100 71 593 149 27 0 0 0 0 1 904
WRN 69 18 594 142 31 0 0 0 0 1 834
BLM 63 95 548 114 31 0 0 0 0 0 802
PKHD1 87 203 340 61 69 0 0 0 0 5 689
MUTYH 85 65 436 136 11 0 0 0 0 1 686
DSP 65 11 399 174 71 0 0 0 0 0 662
SYNE1 34 10 399 88 108 0 0 0 0 1 639
USH2A 105 189 296 41 7 0 0 0 0 0 612
PAH 201 230 106 21 12 0 0 0 0 4 476
SACS 39 206 180 19 7 1 0 0 0 2 442
MYO7A 75 109 200 68 11 0 0 0 0 1 438
DST 11 6 299 69 50 0 0 0 0 0 393
PCDH15 22 86 268 21 1 0 0 0 0 0 390
ABCC6 352 4 3 1 19 0 0 0 0 2 375
NSD1 175 38 92 55 17 0 0 0 0 0 373
CAPN3 87 99 174 32 22 0 0 0 0 1 371
NPC1 69 113 125 40 31 0 0 0 0 1 324
DYSF 71 82 143 30 6 0 0 0 0 1 323
MRE11 15 10 235 49 18 0 0 0 0 0 310
SLC26A4 82 111 127 18 3 0 0 0 0 0 309
FRAS1 15 2 181 64 44 0 0 0 0 0 300
MEFV 27 11 101 33 26 0 0 0 0 168 295
EVC 24 42 96 77 56 0 0 0 0 0 278
IGHMBP2 35 22 152 38 38 0 0 0 0 0 276
ZNF469 4 0 187 53 27 0 0 0 0 2 272
ELP1 7 46 169 53 22 0 0 0 0 0 271
LRP2 17 2 173 41 24 0 0 0 0 3 259
HSPG2 7 1 193 38 18 0 0 0 0 0 257
RTEL1, RTEL1-TNFRSF6B 16 34 142 30 35 0 0 0 0 0 251
ANO5 29 17 171 21 16 1 0 0 0 3 247
CEP290 78 12 119 26 29 0 0 0 0 0 245
CPLANE1 65 12 122 40 36 0 0 0 0 0 232
CDH23 40 10 153 30 0 0 0 0 0 2 231
FREM2 6 1 163 33 29 0 0 0 0 0 231
JUP 8 3 142 55 19 0 0 0 0 0 216
PLOD1 18 4 146 47 13 0 0 0 0 0 211
PLEKHG5 9 1 136 37 23 0 0 0 0 1 206
GNE 27 51 99 27 12 1 0 0 0 0 202
NTRK1 30 8 123 42 18 0 0 0 0 1 202
CLCN1 59 12 95 19 18 0 0 0 0 0 198
SMPD1 43 65 69 17 11 0 0 0 0 0 192
EVC2 33 46 92 14 33 0 0 0 0 0 191
EPG5 30 13 107 16 31 0 0 0 0 0 190
SETX 18 2 112 28 27 0 0 0 0 0 187
INSR 18 0 57 67 35 0 0 0 0 0 177
LAMB2 9 1 137 20 20 0 0 0 0 0 173
USH1C 18 35 100 23 2 0 0 0 0 0 173
ERCC6 30 33 59 50 14 0 0 0 0 0 171
BBS10 43 65 64 10 7 0 0 0 0 0 169
CC2D2A 49 7 95 20 8 0 0 0 0 0 168
ITGB2 27 3 96 24 30 0 0 0 0 11 168
NPHP4 10 1 115 30 31 0 0 0 0 0 167
ERCC4 8 1 104 35 26 0 0 0 0 0 166
GJB2 64 69 55 3 7 0 0 0 0 0 164
DES 12 3 112 23 13 0 0 0 0 0 163
LRSAM1 14 7 101 28 15 0 0 0 0 2 163
ACAT1 56 48 55 12 5 0 0 0 0 0 162
APOB 21 0 101 37 0 0 0 0 0 0 159
POLH 18 3 112 19 7 0 0 0 0 0 157
RMRP 22 67 64 1 0 0 0 0 0 0 150
SPINK5 21 2 74 29 44 0 0 0 0 1 149
AHI1 50 8 56 22 23 0 0 0 0 0 147
TGM1 58 45 58 3 0 0 0 0 0 0 147
WWOX 11 3 90 20 20 0 0 0 0 1 144
NPHP3, NPHP3-ACAD11 18 2 86 21 26 0 0 0 0 0 143
PEX1 22 71 50 4 7 0 0 0 0 0 142
OTOF 90 8 18 0 23 0 7 0 0 0 140
RPGRIP1L 32 8 80 14 12 0 0 0 0 0 139
CFTR, LOC111674472 58 21 42 3 3 0 0 0 0 44 138
CYP27A1 61 30 57 7 9 0 0 0 0 0 138
BBS2 29 36 65 21 10 0 0 0 0 0 136
XPC 28 40 62 5 5 0 0 0 0 0 136
WDR35 16 5 87 24 9 0 0 0 0 0 134
SGCA 20 38 68 14 3 0 0 0 0 0 133
BIN1 8 5 83 28 11 0 0 0 0 1 124
DNMT3B 13 1 84 17 18 0 0 0 0 0 123
PEX6 29 34 49 9 10 0 0 0 0 1 123
BBS12 22 27 57 20 22 0 0 0 0 0 122
COL4A4 12 53 39 15 4 0 0 0 0 0 122
OBSL1 8 3 81 12 17 0 0 0 0 0 121
POMT2 9 6 78 11 14 0 0 0 0 3 120
TMEM67 48 12 57 3 7 0 0 0 0 0 119
COL4A3, MFF-DT 17 61 32 1 11 0 0 0 0 0 118
POMT1 14 4 62 18 21 0 0 0 0 0 118
ALDH3A2 25 47 39 9 3 0 0 0 0 1 115
RAB3GAP2 6 1 86 18 6 0 0 0 0 0 114
BBS9 24 3 49 27 25 0 0 0 0 0 112
MKS1 24 23 62 10 4 0 0 0 0 0 112
TTC21B 4 2 76 18 24 0 0 0 0 0 111
TRAPPC11 6 4 73 11 17 0 0 0 0 0 109
TTC7A 25 1 58 13 15 0 0 0 0 0 109
FLVCR1 4 0 66 10 29 0 0 0 0 0 107
SGCD 8 7 63 20 9 0 0 0 0 0 107
DAG1 5 1 71 19 10 0 0 0 0 0 105
TH 14 31 54 7 4 0 0 0 0 1 104
INVS 13 5 65 13 13 0 0 0 0 0 103
IFIH1 11 5 60 12 15 0 0 0 0 0 101
GDAP1 33 4 49 11 3 0 0 0 0 0 99
ATR 5 3 71 14 5 0 0 0 0 0 98
ASTN2, TRIM32 6 1 81 9 3 0 0 0 0 0 97
BBS1, ZDHHC24 25 23 46 5 8 0 0 0 0 0 96
PEX26 9 2 55 23 9 0 0 0 0 0 96
COQ8A 23 9 46 12 10 0 0 0 0 0 95
ATP13A2 8 1 64 8 13 0 0 0 0 0 94
GCH1 22 4 39 21 11 0 0 0 0 0 94
MYO15A 59 16 14 0 5 0 0 0 0 1 93
INPP5E 18 3 40 23 20 0 0 0 0 0 92
PEX12 16 30 40 6 5 0 0 0 0 0 92
CUL7 9 5 65 8 4 0 0 0 0 0 91
PEX7 18 32 42 3 3 0 0 0 0 0 90
CYP4F22 45 2 35 6 4 0 0 0 0 0 89
SLC4A4 3 1 70 10 5 0 0 0 0 0 89
WNT10A 16 3 50 23 5 0 0 0 0 0 88
CEP41 4 0 65 13 6 0 0 0 0 0 86
BIVM-ERCC5, ERCC5 16 3 46 18 13 0 0 0 0 0 84
PEX2 12 7 54 8 6 0 0 0 0 0 84
SGCB 19 21 44 3 2 0 0 0 0 0 84
SGCG 13 23 43 6 6 0 0 0 0 0 84
GLIS2 3 0 63 14 11 0 0 0 0 0 83
MTTP 12 3 43 23 12 0 0 0 0 0 83
XPA 13 37 30 4 2 0 0 0 0 0 83
ESCO2 28 2 42 6 6 0 0 0 0 0 82
FKRP 14 34 28 6 4 0 0 0 0 0 82
BBS4 23 6 29 10 17 0 0 0 0 0 81
RAB18 5 0 54 13 9 0 0 0 0 0 81
TCIRG1 15 33 36 2 0 0 0 0 0 1 81
TYR 59 22 3 0 3 0 0 0 1 2 81
WDR19 16 2 53 7 9 0 0 0 0 0 81
NIPAL4 28 0 37 9 6 0 0 0 0 0 80
ZFYVE26 10 40 31 1 1 0 0 0 0 0 80
GHR 24 1 34 13 8 0 0 0 0 0 78
IFT122 8 1 54 9 13 0 0 0 0 0 78
OFD1 21 2 25 7 22 0 0 0 0 0 77
PNPLA6 11 2 35 13 16 0 0 0 0 0 76
WHRN 7 0 54 14 0 0 0 0 0 1 76
ABCA12 10 4 46 10 7 0 0 0 0 0 75
PCSK9 0 0 45 30 0 0 0 0 0 0 75
PEX5 3 0 62 7 4 0 0 0 0 0 75
TRIM37 9 12 48 5 3 0 0 0 0 0 75
ALOX12B 17 8 47 2 2 0 0 0 0 0 74
HARS1 1 1 59 8 8 0 0 0 0 0 74
ATCAY 1 0 52 16 4 0 0 0 0 0 73
MKKS 17 3 35 10 10 0 0 0 0 0 73
POMGNT1, TSPAN1 11 5 45 8 5 0 0 0 0 0 73
EFEMP2 9 2 30 24 9 0 0 0 0 0 72
LOC101927055, TTN 0 0 44 16 12 0 0 0 0 0 72
CLRN1 12 13 34 11 4 0 0 0 0 0 71
CTSC 15 2 47 6 2 0 0 0 0 0 71
ERCC8 17 17 31 6 4 0 0 0 0 0 71
MESP2 7 12 36 11 7 0 0 0 0 0 70
PEX10 12 18 37 4 3 0 0 0 0 0 70
ADGRV1 20 18 32 0 0 0 0 0 0 0 69
CEP152 6 1 48 12 3 0 0 0 0 1 69
SAMHD1 30 2 32 9 1 0 0 0 0 0 69
SPART 3 0 44 24 2 0 0 0 0 0 69
TRIM2 5 1 44 17 3 0 0 0 0 0 69
ADAR 14 10 41 7 7 0 0 0 0 0 68
ATRIP, ATRIP-TREX1, TREX1 23 5 28 10 8 0 0 0 0 0 68
TECPR2 3 2 42 11 11 0 0 0 0 1 68
TTPA 17 17 31 4 5 0 0 0 0 0 68
CRPPA 13 6 33 6 10 0 0 0 0 0 67
GRIP1 2 0 50 8 7 0 0 0 0 0 66
NPHP1 16 0 33 14 10 0 0 0 0 0 66
PNPLA1 18 9 26 7 6 0 0 0 0 2 66
TMEM237 7 3 50 6 3 0 0 0 0 0 66
BBS7 15 4 33 6 10 0 0 0 0 0 64
GATAD1, PEX1 10 22 36 1 0 0 0 0 0 1 64
POR 10 0 45 7 3 0 0 0 0 0 64
TWNK 11 5 23 21 5 0 0 0 0 0 64
KCNJ10 2 1 57 2 2 0 0 0 0 0 63
LOXHD1 9 5 32 18 3 0 0 0 0 2 63
ALOXE3 10 2 41 6 3 0 0 0 0 0 62
ANO10 11 3 38 12 4 0 0 0 0 0 62
GMPPB 16 5 33 8 3 0 0 0 0 0 62
WDPCP 2 0 47 11 7 0 0 0 0 0 62
ZNF423 3 1 24 11 25 0 0 0 0 0 62
CENPJ 8 2 36 10 4 0 0 0 0 0 60
ERCC2 17 5 31 3 4 0 0 0 0 1 60
LMNA 24 0 20 11 4 0 0 0 0 2 60
PEX13 8 0 45 4 4 0 0 0 0 0 60
CSF3R 9 0 30 4 16 0 0 0 0 0 59
ARL13B 7 1 40 9 3 0 0 0 0 0 58
KRT2 8 0 17 28 5 0 0 0 0 0 58
LTBP4 10 0 32 9 7 0 0 0 0 0 58
TCTN2 13 0 31 7 14 0 0 0 0 0 58
PEX19 2 0 43 10 3 0 0 0 0 0 57
PTS 13 20 26 2 3 0 0 0 0 0 56
RNASEH2A 13 2 31 13 7 0 0 0 0 0 56
SLC19A2 14 1 34 4 3 0 0 0 0 0 56
KIAA0586 20 3 11 4 17 0 0 0 0 0 55
HSD17B4 11 4 26 9 8 0 0 0 0 1 54
NEK8 2 2 41 6 6 0 0 0 0 0 54
RECQL4 5 13 36 0 0 0 0 0 0 0 54
CHRNG 11 0 34 8 0 0 0 0 0 1 53
FERMT3 11 0 28 7 9 0 0 0 0 0 53
NGF 2 0 40 9 5 0 0 0 0 0 53
SDCCAG8 11 5 30 3 6 0 0 0 0 0 53
TFG 2 0 34 6 10 0 0 0 0 1 53
TMEM216 5 12 30 4 5 0 0 0 0 0 53
RNASEH2B 8 4 35 6 4 0 0 0 0 0 52
TDP1 1 0 29 15 7 0 0 0 0 0 52
CFTR, LOC111674475 27 4 10 2 1 0 0 0 0 15 51
ATP6V1B1 3 2 27 11 11 0 0 0 0 0 49
AAAS 12 3 28 6 1 0 0 0 0 0 48
LIMS2 1 0 29 9 9 0 0 0 0 0 48
ANKS6 9 0 22 5 11 0 0 0 0 0 47
BBS1 12 22 11 6 3 0 0 0 0 1 47
ERCC6, ERCC6-PGBD3 6 14 14 9 5 0 0 0 0 0 47
AP4B1 8 2 26 5 7 0 0 0 0 0 46
DNAJB2 7 4 25 7 3 0 0 0 0 0 46
PEX16 5 1 30 7 4 0 0 0 0 1 46
POLG 10 3 32 0 0 0 0 0 0 2 46
ABHD12 10 3 19 6 8 0 0 0 0 0 45
DDHD2 15 1 18 8 3 0 0 0 0 0 45
SIL1 11 0 24 7 7 0 0 0 0 0 45
ERCC3 8 0 29 7 0 0 0 0 0 0 44
NBN, OSGIN2 2 6 21 10 5 0 0 0 0 0 44
PRDM5 6 0 32 3 3 0 0 0 0 0 44
CSPP1 24 1 12 2 4 0 0 0 0 0 43
EDAR, RANBP2 18 6 11 3 7 0 0 0 0 0 43
MAF, WWOX 2 0 27 8 6 0 0 0 0 0 43
PSMB8 5 0 28 5 8 0 0 0 0 0 43
USH1G 6 0 24 11 2 0 0 0 0 0 43
RAB3GAP1 19 0 17 4 2 0 0 0 0 0 42
MTR 14 1 15 2 10 0 0 0 0 0 41
POMK 3 0 21 11 6 0 0 0 0 0 41
ZBTB24 7 0 21 4 9 0 0 0 0 0 41
CFTR, LOC111674477 7 13 13 6 2 0 0 0 0 2 40
DDHD1 4 0 24 4 8 0 0 0 0 0 40
PHYH 1 4 28 8 5 0 0 0 0 0 40
CEP164 8 2 7 8 15 0 0 0 0 0 39
G6PC3 12 1 23 1 3 0 0 0 0 0 39
NPC2 17 9 16 3 1 0 0 0 0 1 39
RBBP8 3 0 31 4 1 0 0 0 0 0 39
TCTN1 4 0 22 13 7 0 0 0 0 0 39
TOR1AIP1 1 4 25 3 6 0 0 0 0 0 39
TTC8 4 0 26 6 6 0 0 0 0 0 39
ABCA12, SNHG31 4 5 20 6 4 0 0 0 0 0 38
AP4M1 9 2 22 3 4 0 0 0 0 0 38
CHRND 0 0 33 4 1 0 0 0 0 0 38
KIF1C 3 2 19 5 11 0 0 0 0 0 38
ORC6 6 2 27 4 0 0 0 0 0 0 38
PEX3 4 2 27 3 2 0 0 0 0 0 37
CENPJ, RNF17 2 2 23 3 6 0 0 0 0 0 36
PRDM12 6 0 18 4 8 0 0 0 0 0 36
SLC35C1 4 3 21 8 2 0 0 0 0 0 36
TBCE 4 2 23 7 1 0 0 0 0 0 36
ORC1 7 1 22 6 0 0 0 0 0 1 35
PEX14 2 0 26 5 4 0 0 0 0 0 35
CCT5 1 0 14 9 10 0 0 0 0 0 34
KAT5, RNASEH2C 0 0 27 4 3 0 0 0 0 0 34
EIF2AK3 6 0 19 3 5 0 0 0 0 0 33
LOC102723833, USH2A 6 15 11 3 0 0 0 0 0 0 33
AICDA 11 2 10 3 6 0 0 0 0 0 32
CHRNA1 0 0 26 4 2 0 0 0 0 0 32
HOXA1 4 0 25 3 0 0 0 0 0 0 32
MUTYH, TOE1 0 0 21 10 1 0 0 0 0 0 32
PGAP1 11 2 14 1 4 0 0 0 0 0 32
DLL3 8 1 12 5 6 0 0 0 0 0 31
MAG 3 0 20 4 4 0 0 0 0 0 31
MTRR 12 0 11 0 8 0 0 0 0 0 31
SIGMAR1 5 0 18 3 5 0 0 0 0 0 31
TMEM138 5 0 26 1 1 0 0 0 0 0 31
VPS45 2 0 22 1 6 0 0 0 0 0 31
BBS5 12 6 3 2 7 0 0 0 0 0 30
FOXI1 2 0 23 4 2 0 0 0 0 0 30
LAMA2 9 3 18 0 0 0 0 0 0 0 30
TMEM231 6 1 10 6 7 0 0 0 0 0 30
TRIOBP 13 3 11 1 1 0 0 0 0 1 30
HAX1 12 1 14 1 1 0 0 0 0 0 29
RNASEH2C 2 2 23 5 3 0 0 0 0 0 29
C10orf105, CDH23 6 0 21 2 1 0 0 0 0 0 28
RAB3GAP1, ZRANB3 3 0 17 6 2 0 0 0 0 0 28
TAT 5 14 10 1 0 0 0 0 0 0 28
HSPG2, LDLRAD2 0 0 19 4 4 0 0 0 0 0 27
DDB2 4 0 20 1 1 0 0 0 0 0 26
ARL6 8 2 11 3 2 0 0 0 0 0 25
EIF2AK3, LOC101928371 2 0 21 0 2 0 0 0 0 0 25
TMC1 19 1 6 0 0 0 0 0 0 0 25
TREM2 6 5 7 8 1 0 0 0 0 0 25
CDH23, PSAP 0 0 16 8 0 0 0 0 0 0 24
CEP104 7 1 7 0 9 0 0 0 0 0 24
HINT1 9 3 9 1 2 0 0 0 0 0 24
INCA1, KIF1C 2 0 15 4 3 0 0 0 0 0 24
IQCB1 14 0 5 0 5 0 0 0 0 0 24
LRP5 19 3 2 0 0 0 0 0 0 1 24
MAN1B1 4 2 9 3 6 0 0 0 0 0 24
PKD1 17 5 2 0 0 0 0 0 0 0 24
CDC6 1 0 19 1 2 0 0 0 0 0 23
MMADHC 12 1 3 2 5 0 0 0 0 0 23
POMGNT1 2 0 18 2 1 0 0 0 0 0 23
SCN1A, SCN9A 8 1 14 0 0 0 0 0 0 0 23
QDPR 9 2 5 4 3 0 0 0 0 0 22
SLC25A3 1 0 17 4 0 0 0 0 0 0 22
VRK1 6 3 9 1 4 0 0 0 0 1 22
GJA1 6 1 11 1 2 0 0 0 0 0 21
HYLS1, PUS3 1 0 17 1 2 0 0 0 0 0 21
IFNGR2 4 0 11 2 4 0 0 0 0 0 21
NFIX 13 3 3 1 1 0 0 0 0 0 21
TRAPPC9 7 2 12 0 0 0 0 0 0 1 21
CA2 6 1 10 2 1 0 0 0 0 0 20
CEP83 9 0 4 2 5 0 0 0 0 0 20
JAGN1 5 0 10 1 4 0 0 0 0 0 20
MYO3A 5 1 14 0 0 0 0 0 0 0 20
TMEM43, XPC 0 0 1 13 6 0 0 0 0 0 20
TMPRSS3 13 3 5 0 0 0 0 0 0 0 20
TYROBP 5 4 8 5 1 0 0 0 0 0 20
C19orf12 3 0 9 3 4 0 0 0 0 1 19
CFTR, LOC113664106 14 2 1 0 0 0 0 0 0 7 19
NT5C2 7 1 9 2 0 0 0 0 0 0 19
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 19 0 0 0 0 0 0 0 19
CFTR, LOC111674463 2 0 12 4 0 0 0 0 0 0 18
CHSY1 6 0 6 0 6 0 0 0 0 0 18
HYLS1 0 0 15 0 3 0 0 0 0 0 18
IBA57 1 0 11 4 2 0 0 0 0 0 18
VPS37A 1 0 13 1 3 0 0 0 0 0 18
AMPD2 1 0 8 5 3 0 0 0 0 0 17
ATP6V0A2 11 1 4 0 2 0 0 0 0 0 17
BANF1 1 0 13 1 2 0 0 0 0 0 17
ERCC1 3 1 8 2 3 0 0 0 0 0 17
ERCC6, ERCC6-PGBD3, PGBD3 2 1 8 5 1 0 0 0 0 0 17
GDF5, GDF5OS 3 0 2 7 5 0 0 0 0 0 17
OTOG 5 2 10 0 0 0 0 0 0 0 17
APTX 13 1 0 1 1 0 0 0 0 0 16
B9D1 6 1 5 2 3 0 0 0 0 0 16
OTOA 6 3 7 0 0 0 0 0 0 0 16
PNKP 5 1 10 0 0 0 0 0 0 0 16
PRG4 13 0 0 0 3 0 0 0 0 0 16
DCDC2 4 1 5 1 4 0 0 0 0 0 15
LOC112577517, TOR1AIP1 1 0 12 1 1 0 0 0 0 0 15
STRC 5 7 3 0 0 0 0 0 0 1 15
ATP6V0A4 9 3 4 0 0 0 0 0 0 0 14
CDC45 10 6 4 0 0 0 0 0 0 0 14
COG6 2 0 6 3 3 0 0 0 0 0 14
HBB, LOC106099062, LOC107133510 11 1 0 0 1 0 0 0 0 1 14
PEX10, RER1 0 0 14 0 0 0 0 0 0 0 14
ROR2 8 0 6 0 0 0 0 0 0 0 14
SAMHD1, TLDC2 0 0 6 6 2 0 0 0 0 0 14
SLURP1 9 0 4 1 0 0 0 0 0 0 14
TPP1 6 0 7 0 0 0 0 0 0 1 14
CLCN7 8 1 3 0 1 0 0 0 0 0 13
ENTPD1 2 0 10 0 1 0 0 0 0 0 13
FKTN 6 1 4 0 2 0 0 0 0 0 13
LARS2 8 1 3 1 0 0 0 0 0 0 13
MME 5 2 3 0 0 0 0 3 0 0 13
SACS, SGCG 2 0 1 9 3 0 0 0 0 0 13
SMN1 12 1 1 0 0 0 0 0 0 0 13
SPG11 8 0 5 0 0 0 0 0 0 0 13
SPTBN2 2 1 7 1 0 0 0 0 0 2 13
TCTN3 3 0 5 3 3 0 0 0 0 0 13
XPNPEP3 2 0 5 3 3 0 0 0 0 0 13
ARMC9 9 1 2 0 0 0 0 0 0 0 12
CYP24A1 8 2 1 0 1 0 0 0 0 0 12
ESR1, SYNE1 0 0 10 1 1 0 0 0 0 0 12
FGFR2 10 1 1 0 0 0 0 0 0 0 12
PDZD7 11 4 2 0 0 0 0 1 0 0 12
SNX14 10 1 1 0 0 0 0 0 0 0 12
CCDC88C 4 0 6 1 0 0 0 0 0 0 11
CDT1 6 1 2 0 2 0 0 0 0 1 11
EFEMP2, MUS81 1 0 8 1 2 0 0 0 0 0 11
HERC2 3 1 7 0 0 0 0 0 0 0 11
MET 1 0 10 0 0 0 0 0 0 0 11
OCLN 6 1 3 1 1 0 0 0 0 0 11
TBC1D24 4 1 5 0 0 0 0 0 0 1 11
WDR73 9 2 0 0 0 0 0 0 0 0 11
WRAP53 5 0 4 2 0 0 0 0 0 0 11
BCKDK 3 1 6 0 0 0 0 0 0 0 10
C12orf29, CEP290 0 2 7 1 0 0 0 0 0 0 10
COL11A2 3 1 4 0 0 0 0 0 0 2 10
FXN 8 1 0 0 1 0 0 0 0 0 10
GBA2 8 3 1 0 0 0 0 0 0 1 10
GJB6 2 0 4 0 4 0 0 0 0 0 10
GPIHBP1 10 0 0 0 0 0 0 0 0 0 10
IFT43 1 0 8 0 1 0 0 0 0 0 10
NDST1 4 0 6 0 0 0 0 0 0 0 10
PCBD1 6 1 2 0 0 0 0 0 0 2 10
PYCR1 9 0 1 0 0 0 0 0 0 0 10
SLC34A1 7 2 1 0 0 0 0 0 0 0 10
SMOC1 7 3 0 0 0 0 0 0 0 0 10
TPRN 6 1 3 0 0 0 0 0 0 0 10
VLDLR 6 1 2 1 0 0 0 0 0 0 10
​intergenic 9 0 0 0 0 0 0 0 0 0 9
ATP6V0A2, TCTN2 0 0 1 6 2 0 0 0 0 0 9
CDC14A 8 3 0 0 0 0 0 0 0 0 9
EDARADD 3 1 2 0 3 0 0 0 0 0 9
GIPC3 7 1 1 0 0 0 0 0 0 0 9
HACE1 9 0 0 0 0 0 0 0 0 0 9
HARS2 2 7 1 0 0 0 0 0 0 0 9
HPSE2 9 0 0 0 0 0 0 0 0 0 9
KIF7 1 0 7 0 1 0 0 0 0 0 9
LFNG 3 0 4 1 1 0 0 0 0 0 9
NKX6-2 8 0 1 0 0 0 0 0 0 0 9
OTOGL 4 2 1 0 0 0 0 0 0 2 9
PJVK 8 0 1 0 0 0 0 0 0 0 9
PRSS12 1 0 7 0 0 0 0 0 0 1 9
TECTA 6 0 3 0 0 0 0 0 0 0 9
AP4E1 2 1 2 0 3 0 0 0 0 0 8
ARFGEF1, CSPP1 2 0 3 1 3 0 0 0 0 0 8
B3GALNT2, TBCE 0 0 7 0 1 0 0 0 0 0 8
B9D2 3 1 2 1 1 0 0 0 0 0 8
CLDN14 6 4 0 0 0 0 0 0 0 0 8
ERCC8, NDUFAF2 1 0 4 0 3 0 0 0 0 0 8
GPAA1 7 5 1 0 0 0 0 0 0 0 8
GRM1 2 0 1 0 5 0 0 0 0 0 8
IFNGR2, TMEM50B 0 0 6 0 2 0 0 0 0 0 8
LHFPL5 7 0 1 0 0 0 0 0 0 0 8
MARVELD2 5 2 3 0 0 0 0 0 0 0 8
MCFD2, TTC7A 0 0 5 2 1 0 0 0 0 0 8
MED23 4 1 2 0 0 0 0 0 0 1 8
NSUN2 5 0 3 0 0 0 0 0 0 0 8
PIBF1 6 2 1 0 0 0 0 0 0 0 8
SLC25A38 6