ClinVar Miner

Variants studied for hemolytic-uremic syndrome

Included ClinVar conditions (17):
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 risk factor not provided total
60 65 449 225 259 30 6 1000

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 4 8 107 76 70 4 0 248
CFH 20 19 104 53 56 9 3 233
CFI 8 14 60 31 27 6 1 130
THBD 1 1 67 10 38 3 0 114
CD46 13 9 55 8 10 6 0 95
CFB 1 0 30 11 13 2 0 52
C2, CFB 0 0 1 17 15 0 0 26
CFHR5 1 0 5 8 2 0 0 16
DGKE 5 9 2 0 0 0 0 15
CFHR3 0 0 2 3 3 0 0 8
CD46, LOC129932405 0 1 4 1 1 0 0 7
MYH9 0 0 0 0 7 0 0 7
CFHR1 0 0 4 0 0 0 0 4
CFHR2 0 0 0 2 2 0 0 4
COL4A3, MFF-DT 0 0 0 0 4 0 0 4
ADAMTS13 0 1 2 0 0 0 0 3
C1GALT1C1 2 0 1 0 0 0 0 3
COL4A4 0 0 0 0 3 0 0 3
PLA2R1 0 0 0 0 3 0 0 3
BAAT 0 0 0 0 0 0 2 2
CFHR4 0 0 0 2 0 0 0 2
COL4A5 1 0 0 0 1 0 0 2
NPHS1 0 0 0 0 2 0 0 2
SMARCAL1 0 1 1 0 0 0 0 2
C3AR1 0 1 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 1 0 0 0 0 0 1
LAMB2 0 0 0 1 0 0 0 1
MMACHC 1 0 0 0 0 0 0 1
NLRP3 0 0 0 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 0 1
NPHP4 0 0 0 1 0 0 0 1
PLG 0 0 1 0 0 0 0 1
TMEM67 0 0 1 0 0 0 0 1
TRPC6 0 0 0 0 1 0 0 1
TSEN2 1 0 0 0 0 0 0 1
WT1 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 1 183 76 211 0 0 470
Fulgent Genetics, Fulgent Genetics 9 9 134 114 13 0 0 279
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 5 43 44 58 0 0 153
Genome-Nilou Lab 0 0 67 28 37 0 0 132
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 15 8 21 0 0 0 0 44
Sydney Genome Diagnostics, Children's Hospital Westmead 13 6 23 0 0 1 0 43
OMIM 2 0 0 0 0 30 0 32
MVZ Medizinische Genetik Mainz 7 8 12 0 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 0 13
Baylor Genetics 1 1 7 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 4 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 2 5 0 0 0 0 8
GeneReviews 1 0 0 0 0 0 6 7
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 0 7
Mendelics 0 1 1 1 3 0 0 6
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 3 0 0 0 0 4
3billion 1 1 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 0 2
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 1 0 0 0 0 0 2
John Atkinson Laboratory, Washington University School of Medicine in St. Louis 0 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
Nephrogenetics Laboratory, Hacettepe University 1 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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