ClinVar Miner

Variants from MutSpliceDB: a database of splice sites variants effects on splicing, NIH

Location: United States  Primary collection method: research
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 not provided total
0 0 0 0 0 419 419

Gene and significance breakdown #

Total genes and gene combinations: 194
Download table as spreadsheet
Gene or gene combination not provided total
TP53 70 70
PTEN 14 14
CDKN2A 10 10
HLA-B 8 8
ARID1A 6 6
HLA-A 6 6
NF1 6 6
RB1 6 6
TSC2 6 6
ATRX 5 5
CDH1 5 5
KDM6A 5 5
KMT2D 5 5
MET 5 5
SMARCA4 5 5
DNMT3A 4 4
EP300 4 4
HEXA 4 4
KEAP1 4 4
LOC107303340, VHL 4 4
PIK3R1 4 4
ACADM 3 3
ACADVL 3 3
B2M 3 3
BAP1 3 3
BRCA1 3 3
KMT2B 3 3
KMT2C 3 3
MED23 3 3
MSH2 3 3
NDUFS2 3 3
POLD1 3 3
PRKDC 3 3
RECQL4 3 3
STK11 3 3
TSC1 3 3
ABCC4 2 2
ARID1B 2 2
ARID2 2 2
ASXL1 2 2
CC2D1A 2 2
CDKN1B 2 2
CREBBP 2 2
CTCF 2 2
CUL3 2 2
DIS3 2 2
DNAH5 2 2
ECHS1 2 2
FAT1 2 2
FLAD1 2 2
HLA-C 2 2
KLF3 2 2
KLF6 2 2
NF2 2 2
PNKP 2 2
POLE 2 2
PTCH1 2 2
RAD51B 2 2
SETD2 2 2
SMAD4 2 2
SMARCB1 2 2
SPOP 2 2
TGFBR2 2 2
TTC21B 2 2
VHL 2 2
VPS13B 2 2
ABHD12 1 1
ACOX1 1 1
ACTB 1 1
ADA 1 1
ADAMTS13 1 1
AHI1 1 1
AJUBA 1 1
APC 1 1
ARFGEF1, CSPP1 1 1
ARID1A, LOC126805670 1 1
ARID4B 1 1
ARPC1B 1 1
ASS1 1 1
ATM 1 1
BCAT2 1 1
BCKDK 1 1
BCL7C, MIR762HG 1 1
BCOR 1 1
BRIP1 1 1
CACNA1D 1 1
CBL 1 1
CDC73 1 1
CDKN1A 1 1
CDKN2C 1 1
CHD2 1 1
CLPP 1 1
CNNM4 1 1
CPT1A 1 1
CSPP1 1 1
CTNNA1 1 1
CYLD 1 1
DDB2 1 1
DDX3X 1 1
DHTKD1 1 1
DIPK1A, RPL5 1 1
DLD 1 1
DNAJC19 1 1
EPCAM 1 1
EPS8L2 1 1
ERCC2 1 1
ERCC3 1 1
ERCC4 1 1
ETFDH 1 1
EZH2 1 1
FAH 1 1
FANCA 1 1
FANCA, LOC132090445, ZNF276 1 1
FAS 1 1
FAT1, LOC126807255 1 1
FGD4 1 1
FH 1 1
FKTN 1 1
FNIP1 1 1
FUBP1 1 1
GAA 1 1
GLUL 1 1
GLUL, LOC126805944 1 1
GPS2 1 1
GPSM2 1 1
GPT2 1 1
GSS 1 1
HADHA 1 1
HLA-B, MIR6891 1 1
HNF1A 1 1
HPS4 1 1
IFNGR1 1 1
INPP5E 1 1
INPPL1 1 1
IRF1 1 1
IRF1, LOC126807508 1 1
IRF2, LOC126807242 1 1
KDM5C 1 1
KYNU 1 1
LAMB1 1 1
LARS2 1 1
LOC126806211, TTC7A 1 1
LPIN1 1 1
LRPPRC 1 1
LZTR1 1 1
MAP2K4 1 1
MBD6 1 1
MCCC2 1 1
MEN1 1 1
MFSD8 1 1
MMAB 1 1
MOGS 1 1
MTHFR 1 1
NBEAL2 1 1
NBN 1 1
NCOR1 1 1
NDUFS4 1 1
NGLY1 1 1
PALB2 1 1
PEX6 1 1
PLG 1 1
PMS2 1 1
POLH 1 1
POMGNT1 1 1
POMT1 1 1
PPP2R1A 1 1
QKI 1 1
RBM10 1 1
RNF43 1 1
RUNX1 1 1
SBF1 1 1
SBF2 1 1
SDHA 1 1
SERPINB6 1 1
SERPINE1 1 1
SLC1A4 1 1
SLC39A7 1 1
SMAD3 1 1
SMARCC1 1 1
SMARCD1 1 1
SMARCE1 1 1
SMC3 1 1
SUFU 1 1
TIMM50 1 1
TNNT1 1 1
TP53BP1 1 1
TP53BP1, TUBGCP4 1 1
TRMU 1 1
USH1C 1 1
VPS33B 1 1
WDR62 1 1
WT1 1 1
XPC 1 1
ZNRF3 1 1

Condition and significance breakdown #

Total conditions: 1
Download table as spreadsheet
Condition not provided total
not provided 419 419

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.