ClinVar Miner

Variants studied for chronic kidney disease

Included ClinVar conditions (13):
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 association total
8 9 38 4 0 1 60

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign association total
COL4A4 2 1 2 0 0 5
CFHR1 0 0 3 0 0 3
COL4A3, MFF-DT 0 0 2 1 0 3
FN1 0 0 3 0 0 3
PKD1 1 0 2 0 0 3
APOA1 0 0 2 0 0 2
CFHR5 0 0 2 0 0 2
EHHADH 0 0 2 0 0 2
LRRC37A2, WNT9B 0 2 0 0 0 2
ACTN4 0 0 1 0 0 1
ALMS1 0 1 0 0 0 1
ANLN 0 0 1 0 0 1
ARHGDIA 0 0 1 0 0 1
ATIC, FN1 0 0 1 0 0 1
AXDND1, NPHS2 0 1 0 0 0 1
CEL 0 0 1 0 0 1
CFH 0 1 0 0 0 1
CFI 0 0 0 1 0 1
COL4A1 0 0 1 0 0 1
COL4A5 1 0 0 0 0 1
CUBN 1 0 0 0 0 1
DSTYK 0 0 1 0 0 1
ETFB 0 0 1 0 0 1
FN1, LOC126806496 0 0 1 0 0 1
FN1, LOC126806498 0 0 1 0 0 1
FREM1 0 0 1 0 0 1
GANAB 0 0 1 0 0 1
GATA3 1 0 0 0 0 1
INF2 0 0 0 1 0 1
LIPJ, LOC130004283, RNLS 0 0 0 0 1 1
LOC107982234, WT1 0 0 1 0 0 1
LOC129992813, PKD2 1 0 0 0 0 1
MKS1 1 0 0 0 0 1
MT-TF 0 0 1 0 0 1
NHERF1 0 0 1 0 0 1
NPHS2 0 1 0 0 0 1
PASK 0 0 1 0 0 1
SLC13A5 0 1 0 0 0 1
SOX17 0 0 1 0 0 1
TBX18 0 0 1 0 0 1
TFCP2L1 0 1 0 0 0 1
TTC21B 0 0 0 1 0 1
UMOD 0 0 1 0 0 1
ZNF423 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign association total
Cavalleri Lab, Royal College of Surgeons in Ireland 2 4 33 4 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 2 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 1
Bioinformatics & Molecular Biology Unit, Faculty of Science, Al-Azhar University 0 0 0 0 1 1

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