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
494 269 2334 3620 983 7700

Gene and significance breakdown #

Total genes and gene combinations: 389
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 88 7 85 218 147 545
POLE 3 4 181 268 37 493
APC 10 1 107 181 35 334
ATM 17 14 86 144 61 322
POLD1 0 0 95 157 53 305
BRCA1 46 13 46 102 80 287
MSH6 29 4 85 120 27 265
DICER1 6 1 57 141 28 233
MSH2 7 9 49 110 35 210
MLH1 11 5 32 117 41 206
PMS2 1 10 62 92 27 192
PALB2 15 7 65 90 11 188
MLH3 0 4 80 75 25 184
ATM, C11orf65 9 5 53 85 14 166
MET 1 0 60 85 20 166
MSH3 0 3 56 103 4 166
CDH1 2 1 41 94 27 165
AXIN2 0 0 80 72 9 161
BRIP1 7 7 75 64 8 161
FLCN 12 2 39 69 8 130
CHEK2 6 10 61 47 3 127
BAP1 4 2 26 84 9 125
MUTYH 10 8 45 56 6 125
BARD1 5 3 48 47 9 112
STK11 1 0 27 72 6 106
FH 3 1 27 53 12 96
RNF43 0 3 38 40 10 91
POT1 0 4 24 55 7 90
TP53 8 3 10 46 19 86
BMPR1A 0 1 25 47 8 81
ACD 0 1 25 40 8 74
NTHL1 3 0 26 37 4 70
RAD51C 6 1 19 36 7 69
PTEN 5 4 8 37 9 63
RAD51D, RAD51L3-RFFL 5 0 30 21 5 61
DHFR, MSH3 0 2 9 44 5 60
SDHB 2 4 11 36 4 57
SMAD4 1 1 10 38 6 56
BRCA1, LOC126862571 21 1 8 10 14 54
RET 8 2 11 26 6 53
SDHC 1 1 8 28 12 50
CASR 8 5 19 12 4 48
RPS20 0 0 6 26 9 41
TERF2IP 0 1 17 20 3 41
CDKN2A 1 0 13 24 2 40
NF1 1 1 3 17 7 29
LOC107303340, VHL 0 2 12 9 5 28
MEN1 4 4 7 11 2 28
GNA11 0 2 2 19 3 26
GREM1 0 0 6 17 2 25
EPCAM 0 0 1 18 5 24
VHL 1 0 9 9 1 20
CDC73 0 0 2 11 6 19
CDK4 0 0 10 7 2 19
VWF 4 7 7 0 0 18
PIEZO1 3 0 12 0 2 17
SDHA 2 1 4 3 7 17
LOC130009266, POLE 0 1 2 13 0 16
MITF 0 1 2 10 3 16
RB1 0 0 5 9 2 16
AP2S1 1 0 2 10 1 14
LOC110806263, TERT 0 1 7 6 0 14
CDK4, TSPAN31 0 0 5 6 2 13
SPTA1 2 5 4 0 0 11
CDKN1B 0 0 5 3 2 10
CDKN2B 0 0 5 5 0 10
HBB, LOC106099062, LOC107133510 10 0 0 0 0 10
LOC130062899, STK11 0 0 8 1 1 10
CDKN2A, LOC130001603 0 0 2 5 2 9
SDHD 1 0 0 5 2 8
SLC4A1 4 2 2 0 0 8
SPTB 2 3 3 0 0 8
ANK1 0 6 1 0 0 7
CDKN2B, LOC130001608 0 0 3 4 0 7
C3 0 1 1 2 2 6
EPAS1 0 0 4 0 2 6
HSALR1, PIEZO1 0 0 5 1 0 6
MDH2 0 0 3 1 2 6
ALPL 4 1 0 0 0 5
APC, LOC129994371 0 1 3 0 1 5
G6PD 4 1 0 0 0 5
PKLR 3 2 0 0 0 5
PTCH2 0 0 3 1 1 5
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 4 0 0 5
CD46 0 2 2 0 0 4
CDK4, LOC130008148 0 0 1 3 0 4
CDKN2A, LOC130001606 0 0 0 4 0 4
CFI 2 1 1 0 0 4
EGLN1 0 0 3 0 1 4
F8 1 2 0 0 1 4
FANCA 2 0 2 0 0 4
HFE 2 0 2 0 0 4
PTCH1 0 0 3 0 1 4
TFR2 0 0 3 0 1 4
TNFRSF13B 0 2 2 0 0 4
ADAMTS13 0 0 2 0 1 3
AIMP2, PMS2 0 0 0 3 0 3
ATP8B1 2 0 1 0 0 3
CACNA1H 0 0 1 2 0 3
CCDST, FLG 2 1 0 0 0 3
CDH1, LOC130059290 0 0 1 2 0 3
CLCNKB, LOC106501713 0 0 2 1 0 3
HAMP 0 2 0 1 0 3
HJV 1 0 0 0 2 3
LOC126807437, MSH3 0 0 2 1 0 3
LOC129929541, SDHB 0 0 0 2 1 3
MUTYH, TOE1 0 0 1 1 1 3
NF2 0 0 1 2 0 3
STAT3 0 0 3 0 0 3
TMEM127 0 0 2 0 1 3
TTN 0 0 2 1 0 3
TUBGCP6 0 0 3 0 0 3
ABCB11 0 0 2 0 0 2
ABCB4 0 1 1 0 0 2
ABCC4 0 0 2 0 0 2
ACTN1 1 1 0 0 0 2
AMBN 0 2 0 0 0 2
ASMT 1 0 1 0 0 2
ATP7B 1 1 0 0 0 2
BCAS3 0 1 1 0 0 2
BLM 1 0 1 0 0 2
BRIP1, LOC130061360 0 0 0 2 0 2
C7 0 0 1 0 1 2
CCDC141 0 0 2 0 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
EPB41 0 0 2 0 0 2
ERCC2 0 1 1 0 0 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
FGA 0 2 0 0 0 2
FGG 0 2 0 0 0 2
GATA1 0 2 0 0 0 2
GATA2 0 0 2 0 0 2
GFI1B 0 1 1 0 0 2
GJB2 2 0 0 0 0 2
GNAS 0 0 1 0 1 2
GPAA1 0 0 2 0 0 2
HBA1, LOC106804613 1 0 0 0 1 2
HBA2, LOC106804612 1 0 0 0 1 2
HERC2 1 0 1 0 0 2
ITGB3 1 1 0 0 0 2
LOC100289580, PIEZO1 0 0 2 0 0 2
LOC106736614, RET 0 0 1 1 0 2
LOC129390903, RAD51C 0 0 2 0 0 2
LOC129933707, MSH6 0 0 0 2 0 2
LOC130004599, NFKB2 0 0 2 0 0 2
LOC130058209, NTHL1 0 0 0 2 0 2
LRBA 0 1 1 0 0 2
MAN2C1 0 0 2 0 0 2
MAP3K6 0 0 1 1 0 2
MAX 0 0 1 0 1 2
MEFV 1 0 1 0 0 2
MYH9 1 0 1 0 0 2
NLRC3 0 0 2 0 0 2
NTHL1, TSC2 0 0 2 0 0 2
PMM2 2 0 0 0 0 2
RPE65 1 1 0 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
SLC40A1 0 0 1 0 1 2
SPTBN1 0 2 0 0 0 2
STXBP2 0 0 2 0 0 2
TUBB1 0 0 2 0 0 2
UNC13D 0 0 1 0 1 2
WRN 0 0 2 0 0 2
WT1 1 0 0 1 0 2
ABCG8 1 0 0 0 0 1
ABRAXAS1 0 0 1 0 0 1
ACADM 1 0 0 0 0 1
ACD, CARMIL2 0 0 0 1 0 1
ACVRL1 0 0 1 0 0 1
ADAR 0 1 0 0 0 1
AICDA 0 0 1 0 0 1
AIP 0 0 0 0 1 1
AIRE 1 0 0 0 0 1
ALAS2 0 1 0 0 0 1
ANKRD11 0 1 0 0 0 1
ANKRD26 1 0 0 0 0 1
AREL1, MLH3 0 0 0 0 1 1
ARL14EP 0 0 1 0 0 1
ARPC1B 0 0 1 0 0 1
ATP1A1 1 0 0 0 0 1
ATR 0 0 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 0 1 0 0 1
ATRX 1 0 0 0 0 1
BAAT 0 0 0 0 1 1
BLVRA 1 0 0 0 0 1
BPTF 0 1 0 0 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
CASP10 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
COL3A1 1 0 0 0 0 1
COL5A1 0 0 1 0 0 1
COMP 0 0 1 0 0 1
CREBBP 1 0 0 0 0 1
CTCF 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
DDX3X 0 1 0 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
EGLN2, RAB4B-EGLN2 0 0 0 0 1 1
ELANE 0 0 1 0 0 1
ELP1 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
ESR2 0 0 1 0 0 1
ETV6 0 1 0 0 0 1
EXT2, LOC126861201 0 1 0 0 0 1
F10 0 0 1 0 0 1
F13A1 0 0 1 0 0 1
F2 1 0 0 0 0 1
F3 0 0 1 0 0 1
F7 0 0 1 0 0 1
F9 1 0 0 0 0 1
FAN1, MTMR10 0 1 0 0 0 1
FANCA, LOC112486223 0 1 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 1
FAS 0 0 1 0 0 1
FBN1 0 1 0 0 0 1
FBXW11 0 0 1 0 0 1
FGB 0 0 1 0 0 1
FOXO3 0 0 1 0 0 1
FTL 1 0 0 0 0 1
GABRA1 0 0 1 0 0 1
GABRG2 0 1 0 0 0 1
GALNT12 0 0 1 0 0 1
GIGYF1 0 0 1 0 0 1
GINS1 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 0 1
GNAI3 0 0 1 0 0 1
GP1BA 1 0 0 0 0 1
GP1BB, SEPT5-GP1BB 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
HBB, LOC107133510, LOC110006319 1 0 0 0 0 1
HBG1, LOC106099064 0 0 1 0 0 1
HBG2, LOC106099065 0 0 1 0 0 1
HNF4A 0 0 0 1 0 1
HOXB13 0 1 0 0 0 1
HOXD13 1 0 0 0 0 1
HSD11B2 0 0 1 0 0 1
IL17F 0 0 1 0 0 1
IRF7 0 0 1 0 0 1
JAG1 0 1 0 0 0 1
JAGN1 0 0 1 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
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
LOC126860757, PTGS1 0 0 1 0 0 1
LOC126861339, SDHD 0 0 0 0 1 1
LOC126862264, MEFV 0 0 1 0 0 1
LOC126862987, SEC23B 1 0 0 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
LOC130006055, RELA 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
LTBR, SCNN1A 0 0 0 0 1 1
LZTR1 0 1 0 0 0 1
MASTL 0 0 1 0 0 1
MED13L 1 0 0 0 0 1
MEF2C 0 1 0 0 0 1
MMACHC 0 0 1 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 1 0 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
NFKB1 0 0 1 0 0 1
NFKB2 0 0 1 0 0 1
NIPBL 1 0 0 0 0 1
NLRC4 0 0 1 0 0 1
NLRP3 0 0 1 0 0 1
NSD1 0 0 1 0 0 1
PDE4D 0 0 1 0 0 1
PGK1 1 0 0 0 0 1
PGM3 0 1 0 0 0 1
PIK3CG 0 0 1 0 0 1
PLA2G4A 0 0 1 0 0 1
PLXNA3 0 0 1 0 0 1
PMP22 0 0 1 0 0 1
POLG, POLGARF 0 1 0 0 0 1
POLR3C 0 0 1 0 0 1
PRPF8 0 1 0 0 0 1
PTPRJ 0 0 1 0 0 1
RAD50 0 0 1 0 0 1
RAD51B 0 0 1 0 0 1
RAG1 0 0 0 0 1 1
RAG2 0 0 0 0 1 1
RBBP8 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
RELN 0 0 1 0 0 1
RNASEH2B 0 1 0 0 0 1
RPL11 1 0 0 0 0 1
RPS24 1 0 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
SGCG 0 1 0 0 0 1
SLC12A1 0 0 1 0 0 1
SLC19A2 1 0 0 0 0 1
SLC2A1 0 0 1 0 0 1
SLC34A1 0 0 1 0 0 1
SLCO2A1 0 0 1 0 0 1
SMAD3 1 0 0 0 0 1
SPINK1 0 0 0 1 0 1
STAT1 1 0 0 0 0 1
STEAP3 0 0 1 0 0 1
STIM1 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
TNFAIP3 0 0 1 0 0 1
TNFRSF1A 0 0 1 0 0 1
TPO 1 0 0 0 0 1
TRNT1 0 1 0 0 0 1
UNC119 0 0 1 0 0 1
VDR 0 0 0 1 0 1
VPS33B 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
ZBTB20 0 1 0 0 0 1
ZNF687 0 1 0 0 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 2 2334 3620 983 6939
not provided 494 266 0 0 0 760
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 0 0 0 1

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