ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Location: United States — Primary collection method: clinical testing
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 total
1400 429 2634 1652 4240 10353

Gene and significance breakdown #

Total genes and gene combinations: 886
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 44 14 62 59 162 341
BRCA2 70 1 60 70 115 316
TTN 1 4 107 39 70 221
CFTR 62 18 83 28 27 218
NF1 79 10 19 13 57 178
FBN1 37 18 34 27 44 160
BRCA1 39 1 15 48 55 158
DMD 38 2 18 12 56 126
HSPG2 0 0 37 23 56 116
F8 50 25 15 2 16 108
HBB, LOC106099062, LOC107133510 54 4 18 21 5 102
ATP7B 27 11 24 13 25 100
ACVRL1 36 8 10 3 36 93
ACADVL 23 15 36 9 8 91
ACADM 32 14 27 0 18 90
APC 19 1 15 14 39 88
MEFV 13 2 24 21 26 86
NOTCH3 7 6 9 13 44 79
DYNC2H1 3 3 37 10 24 77
FBN2 0 0 21 12 43 76
PIEZO1 1 0 24 6 45 76
USH2A 3 0 18 8 47 76
SPTA1 2 2 34 1 31 70
FLNA 1 0 12 21 35 69
ENG 27 3 11 6 21 68
VWF 7 8 10 4 37 66
F9 42 13 5 0 4 64
FLNB 0 2 20 14 25 61
COL5A1 0 1 13 12 33 59
MYLK 0 0 15 13 30 58
SPTB 4 0 27 0 27 58
PKD2 21 4 12 3 17 57
CTRC 3 5 17 16 15 56
PTPN11 33 1 3 2 17 56
GJB2 29 6 5 6 9 55
HBB, LOC107133510, LOC110006319 16 4 7 16 12 55
MSH6 11 1 9 10 23 54
SYNE1 0 1 26 17 7 51
PSTPIP1 0 0 13 14 20 47
ADGRV1 0 0 18 9 19 46
ANK1 4 1 16 0 25 46
COL1A1 9 12 5 2 18 46
ATM 5 0 7 10 23 45
RET 23 1 5 5 11 45
COL3A1 4 1 11 8 20 44
HBA2, LOC106804612 13 2 6 16 7 44
MSH2 9 0 14 2 19 44
NLRP3 4 1 10 12 17 44
PMS2 8 0 5 6 25 44
MEN1 19 5 4 6 9 43
EVC2 2 0 8 10 22 42
COL5A2 0 0 11 9 21 41
LOC105371049, PKD1 11 4 6 8 12 41
COL2A1 2 9 5 6 18 40
ABCA4 4 7 8 2 18 39
PRSS1, TRB 5 2 5 20 7 39
RYR2 0 0 16 8 15 39
GALT 13 9 7 1 8 38
WFS1 0 0 9 4 25 38
AKAP9 0 0 17 11 9 37
ANK2 0 0 8 7 22 37
LOC100289580, PIEZO1 0 0 12 1 24 37
LPIN2 0 0 16 12 9 37
PLOD1 1 0 10 7 19 37
MYH11, NDE1 0 0 8 9 19 36
MYO15A 0 3 22 2 9 36
SOS1 10 0 6 5 16 36
G6PD 16 3 5 3 8 35
SBF1 0 0 17 8 10 35
MYH11 0 0 8 8 18 34
TSC2 3 0 2 6 23 34
PTEN 9 2 4 2 16 33
TRIP11 0 0 10 4 19 33
EVC 1 0 10 6 15 32
CDH23 0 3 14 1 13 31
CUBN 1 0 13 0 17 31
SLC22A5 9 3 5 2 12 31
COL1A2 5 3 4 6 12 30
HBA1, LOC106804613 4 2 6 12 6 30
FGFR3 8 0 3 2 16 29
INSR 0 2 4 1 22 29
TP53 5 2 7 2 13 29
MECP2 16 0 2 1 9 28
CDH1 2 0 4 6 15 27
DSP 1 0 9 4 13 27
PCDH15 0 0 15 2 10 27
PLCG2 0 0 5 7 15 27
SPINK1 4 0 8 6 9 27
TRPV4 0 1 3 7 16 27
BMPR2 12 2 6 1 5 26
CHD7 8 1 0 2 15 26
MLH1 4 2 6 1 13 26
ABCD1 8 1 6 3 7 25
CBS 2 1 6 6 10 25
CFTR, LOC111674472 12 2 5 3 3 25
ENG, LOC102723566 12 0 3 2 8 25
MVK 2 0 7 6 10 25
MYH14 0 0 17 2 6 25
SKI 0 0 3 9 13 25
SLC26A4 6 1 8 3 7 25
WDR19 0 0 10 7 8 25
DNMT1 0 0 6 6 12 24
EIF2AK4 0 0 3 6 15 24
ELP1 0 0 11 2 11 24
KMT2D 2 0 4 1 17 24
MUTYH 4 0 2 5 13 24
SCN5A 1 1 6 5 11 24
TTC21B 0 1 8 4 11 24
INF2 0 0 7 6 10 23
MYBPC3 3 1 6 5 8 23
SETX 0 0 10 2 11 23
TTR 6 4 4 2 7 23
LIFR 0 0 5 6 11 22
LRBA 1 2 8 6 5 22
PLOD3 0 0 5 6 11 22
POR 0 0 5 11 6 22
SCN1A, SCN9A 1 0 8 2 11 22
SLX4 0 0 2 0 20 22
BRIP1 3 0 7 6 5 21
DHCR7 2 1 3 2 13 21
MYH6 0 0 4 4 13 21
OBSCN 0 0 1 13 7 21
P3H1 1 0 5 4 11 21
PALB2 4 0 3 4 10 21
SLC4A1 4 0 6 0 11 21
TNFRSF1A 1 1 10 3 6 21
CACNA1C 0 0 3 3 14 20
COL4A5 2 8 0 0 10 20
FLCN 12 0 2 4 2 20
IGHMBP2 1 0 8 5 6 20
LAMA4 0 0 5 5 10 20
NOD2 0 0 3 12 5 20
OTOF 1 0 11 5 3 20
SDHA 1 0 0 1 18 20
CCNH, RASA1 9 0 2 2 6 19
CEP290 3 1 4 3 8 19
CNGB1 0 0 5 4 10 19
DLL3 0 0 4 6 9 19
DSG2 0 1 8 3 7 19
GAA 2 1 4 3 9 19
KIF1A 0 0 8 3 8 19
MYH7 3 2 3 3 8 19
NLRP12 0 1 3 4 11 19
SDHB 5 2 3 2 7 19
TGFBR2 0 2 4 4 9 19
EYS 2 0 3 2 11 18
FANCA 1 0 3 0 14 18
PKLR 8 1 8 0 1 18
SLCO1B3, SLCO1B3-SLCO1B7 0 0 9 0 9 18
TECTA 0 1 10 3 4 18
TEK 1 0 1 7 9 18
TRPM4 0 0 8 5 5 18
WDR35 0 3 5 3 7 18
BARD1 0 0 1 5 11 17
COL5A1, LOC101448202 2 0 2 5 8 17
DISP1 0 0 4 1 12 17
DYNC1H1 0 0 4 4 9 17
GLI2 0 0 4 2 11 17
GSR 0 0 9 0 8 17
HK1 0 0 7 0 10 17
LMNA 3 2 2 2 8 17
MYO7A 0 1 6 1 9 17
NEK1 1 0 5 3 8 17
PCNT 0 0 1 7 9 17
PLEKHG5 0 0 8 3 6 17
RP1 0 0 5 7 5 17
SLC2A10 0 1 4 5 7 17
SLCO1B1 1 0 5 0 11 17
TNFRSF13B 4 2 1 4 6 17
EPHB4 2 3 3 1 7 16
KCNQ1 4 1 3 3 5 16
NBN 2 0 4 2 8 16
POLG 1 4 3 1 7 16
SMAD4 0 0 3 5 8 16
TSC1 0 0 2 6 8 16
ATM, C11orf65 2 2 3 3 5 15
BTD 7 2 2 0 4 15
FANCD2, LOC107303338 0 0 1 0 14 15
FKBP10 0 0 8 3 4 15
HEXA 2 0 5 2 6 15
KCNH2 1 3 3 2 6 15
RPGRIP1 0 0 4 3 8 15
WNK1 0 0 7 3 5 15
COMP 0 3 3 4 4 14
EPB42 0 0 8 0 6 14
FGFR1 0 0 3 2 9 14
PCARE 0 0 4 4 6 14
PTPRC 0 0 8 4 2 14
STK11 2 0 1 2 9 14
ARHGEF10 0 0 4 2 7 13
COL11A2 0 0 7 2 4 13
CR2 1 0 3 4 5 13
ELANE 1 1 4 3 4 13
GNPAT 0 1 3 3 6 13
KIF1B 0 0 2 1 10 13
LBR 0 0 4 5 4 13
PIK3CD 1 0 1 2 9 13
PRKG1 0 0 2 4 7 13
SH3TC2 1 0 6 2 4 13
ABCC9 0 0 6 1 5 12
ALPL 1 2 2 2 5 12
CCM2 1 0 0 5 6 12
CFTR, LOC111674477 2 0 4 3 3 12
DHTKD1 0 0 7 3 2 12
EFEMP2 0 0 3 4 5 12
MERTK 1 2 2 2 5 12
NTRK1 0 0 3 1 8 12
OTC 2 1 4 0 5 12
PFKL 0 0 7 0 5 12
PKP2 1 1 4 2 4 12
POLE 0 0 0 3 9 12
PRX 0 0 4 4 4 12
SLC26A2 2 0 4 1 5 12
SMAD3 2 0 3 2 5 12
VCL 0 0 4 1 7 12
ATP7A 2 1 2 2 4 11
BAG3 0 0 0 1 10 11
BMPR1A 0 0 2 2 7 11
CHEK2 4 0 4 2 1 11
CRTAP 0 0 6 1 4 11
CTC1 0 0 1 0 10 11
IGLL1 0 1 0 2 8 11
JUP 0 0 4 1 6 11
KRIT1 6 0 1 0 4 11
MARS1 0 0 6 1 4 11
MYO3A 0 3 7 0 1 11
MYPN 0 0 5 3 3 11
PDE6A 0 0 4 2 5 11
PFKM 0 0 1 0 10 11
RBM20 0 0 4 2 5 11
UGT1A, UGT1A10, UGT1A7, UGT1A8, UGT1A9 0 0 5 0 6 11
USH1C 0 0 6 2 3 11
VAV1 0 0 1 2 8 11
WHRN 0 1 8 0 2 11
AARS1 0 0 1 1 8 10
FIG4 1 0 4 1 4 10
IFT80, TRIM59-IFT80 0 2 3 4 1 10
KIF5A 1 1 2 2 4 10
LDB3 0 0 3 0 7 10
MED25 0 0 2 0 8 10
MMUT 1 2 2 0 5 10
SDHD 4 0 0 0 6 10
TCN2 0 2 2 3 3 10
TGFB2 1 2 1 0 6 10
TGFBR1 0 0 3 1 6 10
AIPL1 0 0 0 2 7 9
ALK 0 0 1 1 7 9
ARSL 0 0 1 0 8 9
ASS1 1 4 1 0 3 9
CD19 0 2 3 2 2 9
CRB1 2 0 1 4 2 9
EPB41 1 0 5 0 3 9
FGFR2 0 0 0 1 8 9
GLMN 2 1 0 1 5 9
GUCY2D 1 0 3 0 5 9
HSPG2, LDLRAD2 0 0 3 1 5 9
LINC00630, RAB40AL 0 0 0 2 7 9
LRRC8A 0 0 1 1 7 9
MET 0 0 0 2 7 9
SDHC 1 0 1 0 7 9
SNRNP200 0 1 2 3 3 9
SNTA1 0 0 6 1 2 9
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 3 0 3 0 3 9
BTK 2 2 0 2 2 8
CDHR1 0 0 4 0 4 8
DCTN1 0 0 1 1 6 8
DICER1 0 0 2 2 4 8
FANCM 0 0 0 0 8 8
FAT4 0 0 2 1 5 8
FGD4 0 1 2 4 1 8
FKRP 1 0 2 2 3 8
LRPPRC 0 0 2 1 5 8
MAP2K2 0 0 2 0 6 8
MFN2 2 0 2 1 3 8
MRE11 0 0 6 2 0 8
MTRR 1 0 3 0 4 8
MYO6 0 1 3 1 3 8
PDE6B 0 0 1 1 6 8
PIK3R1 1 0 1 1 5 8
SERPINH1 0 0 4 1 3 8
SOX9 2 0 2 2 2 8
TMPRSS3 0 0 3 0 5 8
TNNT2 0 1 1 0 6 8
TRIOBP 0 0 2 2 4 8
UGT1A, UGT1A10, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 2 0 6 8
​intergenic 0 0 1 3 3 7
ADA 1 0 2 0 4 7
CASQ2 0 0 5 0 2 7
CBL 0 1 0 2 4 7
CD40LG 1 0 3 3 0 7
CPT1A 0 0 2 2 3 7
CYB5R3 0 0 4 0 3 7
DNM2 0 0 2 2 3 7
FH 0 1 1 2 3 7
HARS1 0 0 6 0 1 7
HSD17B4 1 0 2 1 3 7
MTHFR 0 0 4 0 3 7
MTR 0 0 3 1 3 7
NRL, PCK2 0 0 4 0 3 7
PC 0 0 2 3 2 7
PEX7 0 0 0 2 5 7
PRPF8 0 0 0 5 2 7
RASA1 2 0 0 2 3 7
SLC3A1 1 0 3 0 3 7
SPTLC1 0 0 2 1 4 7
TERT 0 0 3 0 4 7
TFG 0 0 3 0 4 7
TMEM43 0 0 1 2 4 7
TULP1 0 0 1 2 4 7
ACTN2 0 0 2 1 3 6
AGPS 0 0 2 1 3 6
AK1 0 0 2 0 4 6
BICD2 0 0 3 3 0 6
BRAF 2 0 0 0 4 6
CACNB2, NSUN6 0 0 1 2 3 6
CD40 1 0 0 1 4 6
CFTR, LOC111674475 4 0 1 1 0 6
COCH, LOC100506071 0 0 3 2 1 6
DES 0 0 2 0 4 6
DSC2 0 0 2 2 2 6
DSPP 0 0 1 0 5 6
FANCI 0 0 0 0 6 6
FKTN 1 0 1 2 2 6
GFM1 0 0 1 2 3 6
GLI3 0 0 0 1 5 6
HSPB1 0 1 2 1 2 6
LARS2 0 0 0 2 4 6
LOC107303340, VHL 4 1 1 0 0 6
MMACHC 4 0 0 0 2 6
MTMR2 0 0 2 1 3 6
NFKBIA 0 0 1 2 3 6
NR2E3 1 1 0 1 3 6
PINK1 0 0 3 1 2 6
PRKDC 0 0 3 1 2 6
PROM1 0 0 2 2 2 6
PTCH1 0 0 0 1 5 6
RAF1 0 1 1 0 4 6
RHO 2 1 1 1 1 6
SBDS 1 0 0 0 5 6
SBF2 0 0 1 3 2 6
SEC23B 0 0 4 0 2 6
SLC12A6 0 0 2 1 3 6
SLC25A22 0 1 1 3 1 6
SMARCA4 0 0 1 1 4 6
STRC 0 3 3 0 0 6
SUCLG1 0 0 5 0 1 6
TNFAIP3 0 0 2 0 4 6
TNFRSF13C 0 1 1 3 1 6
ACSF3 0 0 1 1 3 5
ACTG1 0 0 1 1 3 5
ALS2 0 0 1 1 3 5
APTX 0 0 1 1 3 5
ATPAF2 0 0 2 1 2 5
ATR 0 0 1 0 4 5
BAP1 0 0 2 0 3 5
BEST1 0 0 0 0 5 5
BSCL2, HNRNPUL2-BSCL2 1 0 2 2 0 5
CORIN 0 0 4 1 0 5
DBT 0 0 0 1 4 5
DCLRE1C 0 0 0 2 3 5
DLD 0 0 1 0 4 5
DTNA 0 0 0 3 2 5
EBP 0 0 1 3 1 5
FBLN5 0 1 1 0 3 5
FXN 1 0 1 1 2 5
GJB1 2 2 1 0 0 5
GJB3 0 0 2 2 1 5
GPI 1 0 1 0 3 5
GPSM2 1 0 2 0 2 5
HOXD10 0 0 1 1 3 5
HRAS, LRRC56 1 0 1 0 3 5
ICOS 0 0 0 1 4 5
KAT6B 0 0 3 1 1 5
KCNJ2 1 0 2 1 1 5
LRSAM1 0 0 0 2 3 5
MPZ 2 1 1 0 1 5
MSH3 0 0 2 2 1 5
MYH9 0 0 1 1 3 5
MYLK2 0 0 0 2 3 5
NFKB2 2 0 0 2 1 5
NT5C3A 0 0 3 0 2 5
OPA1 1 0 2 0 2 5
POLD1 0 0 0 1 4 5
PRKAG2 0 0 1 1 3 5
PTH1R 0 0 1 2 2 5
RAD51D, RAD51L3-RFFL 0 0 2 0 3 5
RARS2 0 1 2 0 2 5
RETREG1 0 0 3 1 1 5
RPGR 0 0 1 0 4 5
SAG 0 0 3 0 2 5
SCN3B 0 0 4 1 0 5
SLC5A7 0 0 1 1 3 5
SMAD9 0 0 1 2 2 5
SOS2 0 0 0 2 3 5
SUFU 0 0 4 1 0 5
TCF3 0 0 1 3 1 5
TGIF1 0 0 3 0 2 5
TMPO 0 0 0 1 4 5
TPRN 0 0 2 0 3 5
TRIM2 0 0 3 1 1 5
ACADS 0 1 0 0 3 4
ACTA2 0 0 3 0 1 4
AMN 0 0 1 2 1 4
BLNK 0 0 0 1 3 4
C10orf105, CDH23 0 0 1 1 2 4
CA4 0 0 3 1 0 4
CAV3 0 0 0 1 3 4
CBLIF 2 0 1 1 0 4
CDAN1 0 0 2 0 2 4
CEACAM16 0 0 3 0 1 4
COQ8A 0 0 2 0 2 4
CPT2 0 0 1 1 2 4
CRX 0 0 0 1 3 4
CSRP3 0 0 0 2 2 4
DLAT 0 0 1 0 3 4
DUPD1, KAT6B 0 0 2 0 2 4
EDARADD 0 0 0 0 4 4
EGR2 0 1 2 1 0 4
ESPN 0 0 2 0 2 4
ESRRB 0 0 2 0 2 4
FANCI, POLG 0 0 0 0 4 4
FLNA, LOC107988032 0 0 2 1 1 4
FSCN2 0 0 0 2 2 4
GAN 1 0 2 0 1 4
GCLC 0 0 1 0 3 4
GLA, RPL36A-HNRNPH2 0 0 1 1 2 4
GSS 0 0 4 0 0 4
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 2 1 0 4
HMGCS2 0 0 2 1 1 4
HSPB8 0 0 2 0 2 4
IGH, IGHM 0 0 0 1 3 4
IKBKG 0 0 2 0 2 4
IMPDH1 0 0 4 0 0 4
JPH2 0 0 1 1 2 4
KARS1 0 0 3 0 1 4
KCNK3 0 0 2 1 1 4
LCA5 0 0 4 0 0 4
LOC101927055, TTN 0 0 3 0 1 4
LOC101928008, SBF2 0 0 3 0 1 4
LOC108021846, SOX9 1 1 0 0 2 4
LOC114827851, MYH6 0 0 0 0 4 4
MAP3K14 0 0 1 1 2 4
MT-ATP6 1 0 3 0 0 4
MT-CO3 0 0 4 0 0 4
MYH10 0 0 2 2 0 4
MYO1A 0 0 0 0 4 4
NDUFAF5 0 0 1 1 2 4
NEFL 0 0 0 1 3 4
OXCT1 0 0 0 1 3 4
PCCA 0 1 0 0 3 4
PCCB 1 0 3 0 0 4
POU3F4 0 0 0 1 3 4
PRKCD 0 0 2 1 1 4
PUS1 0 0 1 2 1 4
RAG2 0 0 2 0 2 4
RIT1 2 0 1 0 1 4
SCO2, TYMP 0 0 0 0 4 4
SGCA 0 0 3 0 1 4
SPG7 0 0 0 0 4 4
SPRED1 0 0 0 0 4 4
SPTLC2 0 0 3 0 1 4
SUOX 0 1 1 1 1 4
TCN1 0 0 1 1 2 4
TDP1 0 0 3 0 1 4
TOPORS 0 0 2 0 2 4
TRMU 0 0 1 0 3 4
USH1G 0 0 2 1 1 4
YARS1 0 0 2 1 1 4
ACAD9 1 0 0 0 2 3
ACADL 0 0 1 0 2 3
ALDOA, LOC112694756 0 0 1 0 2 3
ATRX 0 0 2 0 1 3
BCKDHA 0 0 0 0 3 3
C8orf37 0 0 0 0 3 3
CARD11 0 1 0 1 1 3
CAV1 0 0 1 0 2 3
CCBE1 0 0 0 1 2 3
CCT5 0 0 1 0 2 3
CDKN2A 0 1 2 0 0 3
CFTR, LOC111674463 0 0 0 1 2 3
CILK1 0 0 1 2 0 3
CNGA1, LOC101927157 0 0 0 2 1 3
COQ9 0 0 0 1 2 3
COX10 0 0 1 0 2 3
COX15 0 0 0 0 3 3
DDR2 0 0 1 0 2 3
DNMT3B 0 0 0 2 1 3
EDA 1 1 0 0 1 3
EPHB4, SLC12A9 0 0 0 0 3 3
EVC, EVC2 0 0 1 1 1 3
EYS, PHF3 0 2 0 1 0 3
FBN1, LOC113939944 1 0 1 0 1 3
FLT4 0 0 1 2 0 3
GAREM2, HADHA 1 0 1 0 1 3
GDF2 0 0 1 1 1 3
HCFC1 0 0 1 2 0 3
HSPB3 0 0 2 0 1 3
ILK, TAF10 0 0 2 1 0 3
IRF2BP2 0 0 1 0 2 3
KCNE1 0 0 1 0 2 3
KRAS 2 0 0 0 1 3
LITAF 0 0 1 0 2 3
LOC109611589, RUNX2 0 0 0 0 3 3
LOXHD1 0 0 1 1 1 3
MHRT, MYH7 0 0 0 0 3 3
MMAA 0 0 0 1 2 3
MMAB 0 0 3 0 0 3
MOGS 0 0 1 2 0 3
MT-CO2 0 0 3 0 0 3
MT-ND1 2 0 1 0 0 3
MT-ND4 1 0 2 0 0 3
MT-ND5 0 0 3 0 0 3
MYOT 0 0 0 2 1 3
NDUFS1 0 0 0 1 2 3
NDUFS2 0 0 1 0 2 3
NDUFV2 0 0 1 0 2 3
NEXN 0 0 2 0 1 3
NGF 0 0 0 1 2 3
NPC1 0 0 1 1 1 3
OTOA 0 0 1 0 2 3
PHOX2B 0 0 1 0 2 3
PIK3CA 0 0 1 0 2 3
PIK3CG 0 0 1 1 1 3
PJVK 0 0 2 0 1 3
PTCHD1 0 0 1 0 2 3
RAD51C 1 0 0 1 1 3
SCN9A 0 0 3 0 0 3
SGCD 0 0 0 2 1 3
SGCG 0 0 1 1 1 3
SHH 0 0 0 0 3 3
SHOC2 1 0 1 1 0 3
SLC25A13 0 0 0 0 3 3
SLC25A19 0 0 2 0 1 3
SLC26A5 0 0 2 0 1 3
SLC35D1 0 0 1 2 0 3
SLC6A8 0 0 1 0 2 3
SUCLA2 0 0 0 1 2 3
SURF1 0 0 1 0 2 3
TCAP 0 0 1 1 1 3
TGFB3 0 0 1 1 1 3
TP53, WRAP53 0 0 0 0 3 3
TPM1 0 0 2 1 0 3
TRDN 0 0 1 2 0 3
TTC8 0 0 1 1 1 3
VHL 0 0 0 0 3 3
WRAP53 0 0 1 0 2 3
ZIC2 1 0 0 0 2 3
AGL 0 0 2 0 0 2
AICDA 1 0 0 0 1 2
AKT1 0 0 0 1 1 2
ALG11, ATP7B 0 0 0 0 2 2
ANKRD1 0 0 1 1 0 2
AXIN2 0 0 0 0 2 2
BLNK, ZNF518A 0 0 2 0 0 2
CACNA1A 2 0 0 0 0 2
CAV3, SSUH2 0 0 1 0 1 2
CCDC50 0 0 1 1 0 2
CD79A 0 0 2 0 0 2
CD81 0 0 0 1 1 2
CERKL 0 0 2 0 0 2
CHM 0 0 0 0 2 2
CLN6 0 0 0 0 2 2
CLRN1 1 0 1 0 0 2
COL9A3 0 0 0 1 1 2
COQ2, LOC112997540 0 0 0 0 2 2
COX4I2 0 0 0 1 1 2
CRYAB 0 0 0 1 1 2
CTF1 0 0 1 1 0 2
CTNS 0 0 2 0 0 2
DARS2 0 0 0 0 2 2
DGUOK 0 0 1 0 1 2
DHFR, MSH3 0 0 0 0 2 2
DNAJB2 0 0 0 1 1 2
EDAR 0 0 1 0 1 2
EMD 0 0 1 1 0 2
ETFB 0 0 2 0 0 2
EYA4 0 0 0 0 2 2
EYA4, TARID 0 0 1 0 1 2
FAM161A 0 0 1 0 1 2
FANCA, ZNF276 0 0 0 0 2 2
FANCB 0 0 0 0 2 2
FANCE 0 0 0 0 2 2
FANCG, VCP 0 0 0 0 2 2
FANCL, VRK2 0 0 0 0 2 2
FHL1 0 0 0 0 2 2
FOXH1 0 0 0 0 2 2
FOXN1 0 0 1 0 1 2
GAMT 0 1 0 0 1 2
GARS1 0 0 0 1 1 2
GATA2 0 0 0 0 2 2
GPD1L 0 0 1 0 1 2
GSDME 0 0 1 0 1 2
HINT1 0 0 1 0 1 2
IDUA 0 0 0 1 1 2
KCNA5 0 0 1 0 1 2
KCNE2 0 0 1 0 1 2
KCNE3 0 0 1 0 1 2
KCNQ1, KCNQ1OT1 0 0 0 0 2 2
KCNQ2 1 1 0 0 0 2
KCNQ4 0 0 0 1 1 2
KDM6A 0 0 0 2 0 2
KIAA0753 2 0 0 0 0 2
LOC102723833, USH2A 0 0 2 0 0 2
LOC107982234, WT1 0 0 0 0 2 2
LOC110121269, SCN5A 0 0 1 0 1 2
LOC111811965, NF1 0 0 1 1 0 2
LOX 0 0 0 0 2 2
LRTOMT 0 0 0 0 2 2
LZTR1 0 0 0 1 1 2
MALT1 0 0 0 0 2 2
MAP2K1 0 0 0 0 2 2
MASP1 0 0 1 0 1 2
MCEE 0 0 0 1 1 2
MILR1, POLG2 0 0 0 0 2 2
MMAB, MVK 0 0 0 0 2 2
MORC2 0 0 0 0 2 2
MRPS22 0 0 0 1 1 2
MS4A1 0 0 1 0 1 2
MT-CYB 0 0 2 0 0 2
MT-ND2 0 1 1 0 0 2
MT-ND3 2 0 0 0 0 2
MT-ND6 1 0 1 0 0 2
MT-TI 0 0 2 0 0 2
MT-TL1 2 0 0 0 0 2
MYL2 0 0 0 0 2 2
MYL3 0 0 1 1 0 2
NDRG1 0 0 1 0 1 2
NDUFAF2 0 0 0 1 1 2
NDUFAF4 0 0 0 0 2 2
NDUFS3 0 0 0 1 1 2
NHS 0 0 0 1 1 2
NLGN4X 0 0 0 0 2 2
NMNAT1 0 0 0 1 1 2
NODAL 0 0 0 0 2 2
NRL 0 0 0 0 2 2
PCDH19 0 0 0 0 2 2
PDE3B 0 0 2 0 0 2
PDHX 0 0 0 0 2 2
PDK3 0 0 2 0 0 2
PGK1 0 0 2 0 0 2
PMP22 1 0 1 0 0 2
POU4F3 0 0 0 1 1 2
PPIB 0 0 1 0 1 2
PPIB, SNX22 0 0 0 1 1 2
PRPF31 0 0 2 0 0 2
RAG1 0 0 0 1 1 2
RB1 1 0 0 0 1 2
RD3 0 0 2 0 0 2
RECQL 0 0 1 1 0 2
RLBP1 0 0 1 0 1 2
RP2 0 0 1 0 1 2
RP9 0 0 0 0 2 2
RPE65 0 0 0 1 1 2
RPS15 0 0 0 0 2 2
RUNX1 1 0 1 0 0 2
RUNX2 0 0 1 0 1 2
RYR1 0 1 1 0 0 2
SCN10A 0 0 2 0 0 2
SCN1B 0 0 1 0 1 2
SCN4B 0 0 0 1 1 2
SCO1 0 0 1 0 1 2
SEMA4A 0 0 0 1 1 2
SIX3 1 0 0 0 1 2
SLC25A15 0 0 1 0 1 2
SLC25A4 0 0 0 1 1 2
SMPD1 0 0 1 0 1 2
TERC 0 0 0 0 2 2
TINF2 0 0 0 0 2 2
TMC1 1 0 1 0 0 2
TMIE 0 0 1 0 1 2
TPI1 0 0 2 0 0 2
TTC37 0 0 0 1 1 2
TUFM 0 0 0 0 2 2
TWNK 0 0 0 0 2 2
XIAP 0 0 0 0 2 2
ZBTB24 0 0 0 0 2 2
ABCB7 0 0 0 0 1 1
ABCD4 0 0 1 0 0 1
ACACA 0 0 1 0 0 1
ACAD9, CFAP92 0 0 1 0 0 1
ACADVL, DLG4 0 0 0 0 1 1
ACAT1 0 0 1 0 0 1
ACTA1 0 1 0 0 0 1
ADA, LOC107303343 0 0 0 0 1 1
ADA2 0 0 0 1 0 1
AMER1 1 0 0 0 0 1
AOPEP, FANCC 0 0 0 0 1 1
APOB 0 0 0 0 1 1
ARCN1 0 1 0 0 0 1
ARFGEF2 0 0 1 0 0 1
ASH1L 1 0 0 0 0 1
ATL1 0 0 1 0 0 1
BCKDHB 0 0 0 1 0 1
BCS1L 0 0 0 0 1 1
BEST1, FTH1 0 0 0 0 1 1
CACNA1S 0 0 0 1 0 1
CAMK2D 0 0 1 0 0 1
CANT1 0 0 0 1 0 1
CASK 0 0 1 0 0 1
CD320 0 0 1 0 0 1
CDH23, PSAP 0 0 0 0 1 1
CDK5RAP2 0 0 1 0 0 1
CDKN1B 0 0 0 0 1 1
CDKN1B, GPR19 0 0 0 0 1 1
CDON 0 0 0 0 1 1
CEP85L, PLN 0 0 0 0 1 1
CFTR, LOC113633877 1 0 0 0 0 1
CHD8 1 0 0 0 0 1
CHRNG 1 0 0 0 0 1
CHUK 0 0 1 0 0 1
CLDN14 0 0 0 0 1 1
CLTC 0 1 0 0 0 1
COL4A1 0 0 1 0 0 1
COL4A3, MFF-DT 1 0 0 0 0 1
COL9A2 0 0 0 1 0 1
COQ2 0 0 1 0 0 1
CRYM 0 0 0 1 0 1
CTCF 0 1 0 0 0 1
CTLA4 0 0 1 0 0 1
CUL4B 0 0 0 0 1 1
CYBB 1 0 0 0 0 1
CYCS 0 0 0 0 1 1
CYGB, PRCD 0 0 0 1 0 1
DDOST, PINK1 0 0 0 0 1 1
DHCR7, NADSYN1 0 0 0 0 1 1
DIAPH1 0 0 1 0 0 1
DIPK1A, RPL5 0 0 0 0 1 1
DKC1 0 0 0 0 1 1
DLL3, PLEKHG2 0 0 0 0 1 1
DNM1L 0 1 0 0 0 1
DNM1L, YARS2 0 0 1 0 0 1
DNMT1, LOC107080555 0 0 0 0 1 1
DSC2, DSCAS 0 0 1 0 0 1
EFEMP2, MUS81 0 0 0 0 1 1
ETFA 0 0 0 0 1 1
ETHE1 0 0 0 0 1 1
EXD3 0 0 1 0 0 1
FANCA, LOC112486223 0 0 0 0 1 1
FANCD2, FANCD2OS 0 0 0 0 1 1
FANCL 0 0 0 0 1 1
FASTKD2 0 0 0 1 0 1
FBXL4 0 0 0 0 1 1
FBXO41 0 0 1 0 0 1
FGF8 0 0 0 0 1 1
G6PC 1 0 0 0 0 1
G6PD, IKBKG 0 0 0 0 1 1
G6PD, IKBKG, LOC107181288 0 0 1 0 0 1
GALC 1 0 0 0 0 1
GALNS 0 0 0 0 1 1
GAMT, NDUFS7 0 0 0 0 1