ClinVar Miner

Variants from Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Location: Denmark  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
398 197 1978 2991 928 6492

Gene and significance breakdown #

Total genes and gene combinations: 311
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 77 5 93 162 140 477
POLE 2 5 151 224 36 418
APC 8 1 96 146 35 286
POLD1 0 0 80 144 53 277
ATM 14 9 74 110 59 266
BRCA1 41 11 47 81 74 254
MSH6 22 2 69 102 27 222
DICER1 6 1 41 126 26 200
MLH1 9 4 29 96 41 179
MSH2 4 7 43 93 32 179
PMS2 2 7 54 78 24 165
PALB2 13 6 56 77 10 162
MLH3 0 4 66 67 24 161
CDH1 1 1 40 77 25 144
MET 1 0 54 70 19 144
MSH3 0 2 46 90 4 142
AXIN2 0 0 71 58 9 138
BRIP1 6 3 63 57 7 136
ATM, C11orf65 8 4 41 65 13 131
FLCN 12 2 34 56 8 112
CHEK2 4 9 51 37 3 104
MUTYH 9 7 34 48 6 104
BAP1 4 2 25 62 9 102
BARD1 4 2 40 39 8 93
STK11 1 0 23 57 6 87
FH 2 0 22 47 12 83
RNF43 0 2 36 33 9 80
POT1 0 3 20 44 7 74
TP53 7 2 9 36 19 73
BMPR1A 0 1 20 38 7 66
NTHL1 3 0 23 32 4 62
PTEN 5 5 7 35 9 61
ACD 0 0 21 32 7 60
RAD51C 5 1 16 26 7 55
DHFR, MSH3 0 1 9 38 5 53
SDHB 2 2 10 32 4 50
SMAD4 0 1 9 34 6 50
BRCA1, LOC126862571 21 0 7 8 13 49
RAD51D, RAD51L3-RFFL 3 0 26 13 5 47
CASR 8 4 19 11 3 45
SDHC 1 1 7 25 11 45
RET 6 2 9 21 6 44
CDKN2A 1 0 10 20 2 33
TERF2IP 0 1 14 15 3 33
RPS20 0 0 4 19 8 31
NF1 1 0 3 15 7 26
GNA11 0 2 2 17 3 24
MEN1 3 3 6 10 2 24
EPCAM 0 0 1 17 5 23
GREM1 0 0 6 15 2 23
LOC107303340, VHL 0 0 9 8 4 21
CDK4 0 0 9 6 2 17
VHL 1 0 7 8 1 17
CDC73 0 0 1 10 5 16
MITF 0 1 2 10 3 16
LOC130009266, POLE 0 1 2 11 0 14
SDHA 2 0 4 3 5 14
PIEZO1 3 0 8 0 2 13
VWF 4 5 4 0 0 13
AP2S1 1 0 1 9 1 12
RB1 0 0 5 5 2 12
CDK4, TSPAN31 0 0 3 5 2 10
CDKN1B 0 0 5 3 2 10
LOC110806263, TERT 0 1 3 6 0 10
CDKN2B 0 0 5 4 0 9
LOC130062899, STK11 0 0 7 1 1 9
CDKN2A, LOC130001603 0 0 2 4 2 8
SDHD 1 0 0 5 2 8
SPTA1 2 3 3 0 0 8
SLC4A1 3 2 2 0 0 7
ANK1 0 4 1 0 0 5
APC, LOC129994371 0 1 3 0 1 5
C3 0 0 1 2 2 5
HSALR1, PIEZO1 0 0 5 0 0 5
PKLR 3 2 0 0 0 5
CDKN2A, LOC130001606 0 0 0 4 0 4
FANCA 2 0 2 0 0 4
HFE 2 0 2 0 0 4
PTCH1 0 0 3 0 1 4
PTCH2 0 0 3 1 0 4
SPTB 1 1 2 0 0 4
ADAMTS13 0 0 2 0 1 3
ATP8B1 2 0 1 0 0 3
CACNA1H 0 0 1 2 0 3
CD46 0 2 1 0 0 3
CDKN2B, LOC130001608 0 0 1 2 0 3
CFI 2 1 0 0 0 3
CLCNKB, LOC106501713 0 0 2 1 0 3
EGLN1 0 0 2 0 1 3
F8 1 2 0 0 0 3
HAMP 0 2 0 1 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 0 3
LOC129929541, SDHB 0 0 0 2 1 3
NF2 0 0 1 2 0 3
TFR2 0 0 2 0 1 3
TMEM127 0 0 2 0 1 3
TNFRSF13B 0 2 1 0 0 3
TUBGCP6 0 0 3 0 0 3
ABCB4 0 1 1 0 0 2
ALPL 2 0 0 0 0 2
AMBN 0 2 0 0 0 2
BLM 1 0 1 0 0 2
C7 0 0 1 0 1 2
CCDC141 0 0 2 0 0 2
CCDST, FLG 1 1 0 0 0 2
CDH1, LOC130059290 0 0 0 2 0 2
CDK4, LOC130008148 0 0 0 2 0 2
CFH 0 0 1 0 1 2
CFTR 2 0 0 0 0 2
CHURC1-FNTB, FNTB, MAX 0 0 0 1 1 2
COL7A1 1 0 0 1 0 2
EP300 1 1 0 0 0 2
EPAS1 0 0 1 0 1 2
F11 2 0 0 0 0 2
F13B 0 0 2 0 0 2
F5 1 0 1 0 0 2
FAH 2 0 0 0 0 2
G6PD 2 0 0 0 0 2
HJV 1 0 0 0 1 2
ITGB3 1 1 0 0 0 2
LOC100289580, PIEZO1 0 0 2 0 0 2
MAX 0 0 1 0 1 2
MDH2 0 0 2 0 0 2
MUTYH, TOE1 0 0 1 0 1 2
MYH9 1 0 1 0 0 2
NFKB1 0 0 2 0 0 2
NTHL1, TSC2 0 0 2 0 0 2
RTEL1, RTEL1-TNFRSF6B 1 1 0 0 0 2
SEC23B 2 0 0 0 0 2
SLC12A3 0 1 1 0 0 2
SLC26A4 1 1 0 0 0 2
STAT3 0 0 2 0 0 2
TUBB1 0 0 2 0 0 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 2 0 0 2
UNC13D 0 0 1 0 1 2
WRN 0 0 2 0 0 2
ABCB11 0 0 1 0 0 1
ABCC4 0 0 1 0 0 1
ACTN1 0 1 0 0 0 1
ACVRL1 0 0 1 0 0 1
AICDA 0 0 1 0 0 1
AIMP2, PMS2 0 0 0 1 0 1
AIP 0 0 0 0 1 1
ALAS2 0 1 0 0 0 1
ANKRD11 0 1 0 0 0 1
AREL1, MLH3 0 0 0 0 1 1
ARPC1B 0 0 1 0 0 1
ATR 0 0 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 0 1 0 0 1
BLVRA 1 0 0 0 0 1
BPTF 0 1 0 0 0 1
BRIP1, LOC130061360 0 0 0 1 0 1
BTK 0 1 0 0 0 1
C1R 0 0 0 1 0 1
C1S 0 0 1 0 0 1
C2 0 1 0 0 0 1
C3AR1 0 1 0 0 0 1
C6 0 0 1 0 0 1
CA5A 0 0 1 0 0 1
CFAP126 0 0 0 1 0 1
CFHR5 0 0 0 1 0 1
CHD8 0 1 0 0 0 1
CHEK1 0 1 0 0 0 1
CIITA 0 0 1 0 0 1
CLCN7 1 0 0 0 0 1
COL1A1 0 0 1 0 0 1
COL5A1 0 0 1 0 0 1
COMP 0 0 1 0 0 1
CREBBP 1 0 0 0 0 1
CTNND2 0 0 1 0 0 1
CUL4B 1 0 0 0 0 1
CYB5R3 1 0 0 0 0 1
CYBB 0 0 1 0 0 1
CYP27B1 1 0 0 0 0 1
DCPS, GSEC 0 0 1 0 0 1
DHCR7 1 0 0 0 0 1
DIPK1A, RPL5 0 0 1 0 0 1
DOCK2 0 0 1 0 0 1
DOK7 1 0 0 0 0 1
DYSF 1 0 0 0 0 1
ELANE 0 0 1 0 0 1
ELP1 0 0 1 0 0 1
EPB41 0 0 1 0 0 1
EPHB2 0 0 1 0 0 1
EPO 0 0 1 0 0 1
EPOR 0 0 0 1 0 1
ERCC2 0 1 0 0 0 1
ETV6 0 1 0 0 0 1
F10 0 0 1 0 0 1
F13A1 0 0 1 0 0 1
F3 0 0 1 0 0 1
F9 1 0 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 1
FBXW11 0 0 1 0 0 1
FGB 0 0 1 0 0 1
FGG 0 1 0 0 0 1
FTL 1 0 0 0 0 1
GABRA1 0 0 1 0 0 1
GABRG2 0 1 0 0 0 1
GATA1 0 1 0 0 0 1
GATA2 0 0 1 0 0 1
GFI1B 0 1 0 0 0 1
GIGYF1 0 0 1 0 0 1
GJB2 1 0 0 0 0 1
GNAI3 0 0 1 0 0 1
GNAS 0 0 0 0 1 1
GP1BA 1 0 0 0 0 1
GRIN2A 0 0 1 0 0 1
GSN 1 0 0 0 0 1
HAX1 1 0 0 0 0 1
HBA1, LOC106804613 0 0 0 0 1 1
HBA2, LOC106804612 0 0 0 0 1 1
HBG1, LOC106099064 0 0 1 0 0 1
HNF4A 0 0 0 1 0 1
HOXB13 0 1 0 0 0 1
HSD11B2 0 0 1 0 0 1
IRF7 0 0 1 0 0 1
JAG1 0 1 0 0 0 1
KARS1, TERF2IP 0 0 0 0 1 1
KCNN4 1 0 0 0 0 1
KCNT1 0 0 1 0 0 1
KLF1, LOC117125591 0 0 1 0 0 1
KLHL3 0 1 0 0 0 1
KLLN, LOC130004273, PTEN 0 0 0 0 1 1
KLLN, PTEN 0 0 1 0 0 1
KMT2D 0 0 1 0 0 1
LDLR 1 0 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 1
LOC106736614, RET 0 0 1 0 0 1
LOC107982234, WT1 0 0 0 0 1 1
LOC107988042, MITF 0 0 0 1 0 1
LOC111811965, MIR4733HG, NF1 0 0 0 1 0 1
LOC126807437, MSH3 0 0 1 0 0 1
LOC126860757, PTGS1 0 0 1 0 0 1
LOC126861339, SDHD 0 0 0 0 1 1
LOC126862987, SEC23B 1 0 0 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 1
LOC129929542, SDHB 0 0 0 1 0 1
LOC129934333, TMEM127 0 0 1 0 0 1
LOC129994918, NR3C1 0 0 1 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 1
LOC130004273, PTEN 0 0 1 0 0 1
LOC130004274, PTEN 0 0 0 1 0 1
LOC130004599, NFKB2 0 0 1 0 0 1
LOC130055850, MAX 0 0 0 1 0 1
LOC130061310, RAD51C 0 0 0 1 0 1
LPAR6, RB1 0 0 0 0 1 1
LRBA 0 1 0 0 0 1
LZTR1 0 1 0 0 0 1
MAP3K6 0 0 1 0 0 1
MASTL 0 0 1 0 0 1
MED13L 1 0 0 0 0 1
MEF2C 0 1 0 0 0 1
MEFV 1 0 0 0 0 1
MPZ, SDHC 0 0 0 0 1 1
MVP-DT, PRRT2 0 1 0 0 0 1
MYO7A 1 0 0 0 0 1
NAA10 0 1 0 0 0 1
NBEA 0 0 1 0 0 1
NBEAL2 0 1 0 0 0 1
NBN 0 0 1 0 0 1
NEK10 0 0 1 0 0 1
NF1, OMG 0 0 0 0 1 1
NIPBL 1 0 0 0 0 1
NLRC3 0 0 1 0 0 1
NLRC4 0 0 1 0 0 1
NLRP3 0 0 1 0 0 1
PDE4D 0 0 1 0 0 1
PGM3 0 1 0 0 0 1
PLA2G4A 0 0 1 0 0 1
PMM2 1 0 0 0 0 1
PMP22 0 0 1 0 0 1
POLR3C 0 0 1 0 0 1
PRPF8 0 1 0 0 0 1
RAD50 0 0 1 0 0 1
RAD51B 0 0 1 0 0 1
RECQL 0 0 1 0 0 1
RECQL4 0 0 1 0 0 1
RELA 0 1 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RPS6KA2 0 1 0 0 0 1
RYR1 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
SERPINA7 0 0 1 0 0 1
SETD1B 0 1 0 0 0 1
SF3B1 0 0 1 0 0 1
SLC12A1 0 0 1 0 0 1
SLC2A1 0 0 1 0 0 1
SLC34A1 0 0 1 0 0 1
SLC40A1 0 0 1 0 0 1
SPINK1 0 0 0 1 0 1
STXBP2 0 0 1 0 0 1
SUFU 0 1 0 0 0 1
TCF20 1 0 0 0 0 1
TCF3 0 0 1 0 0 1
TERT 0 0 1 0 0 1
TG 0 0 1 0 0 1
THBD 0 0 0 0 1 1
THRB 1 0 0 0 0 1
TINF2 0 1 0 0 0 1
TLK2 0 1 0 0 0 1
TMEM240 0 0 1 0 0 1
TNFRSF1A 0 0 1 0 0 1
VTN 0 0 1 0 0 1
WAS 1 0 0 0 0 1
WDFY3 0 0 1 0 0 1
WFS1 0 0 1 0 0 1
WNK1 0 0 1 0 0 1
WNT1 0 0 1 0 0 1
WT1 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 3
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 1978 2991 928 5897
not provided 398 196 0 0 0 594
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.