ClinVar Miner

Variants studied for atypical 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
58 106 839 228 259 30 6 1413

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 4 17 264 76 70 4 0 408
CFH 21 31 208 54 56 9 3 345
CFI 8 29 123 32 27 6 1 203
THBD 1 5 130 11 38 3 0 182
CD46 13 10 56 8 10 6 0 96
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 4 9 3 0 0 0 0 15
CFHR3 0 0 3 3 3 0 0 9
CD46, LOC129932405 0 1 4 1 1 0 0 7
MYH9 0 0 0 0 7 0 0 7
CFHR1 0 0 5 0 0 0 0 5
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
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
C1GALT1C1 1 0 0 0 0 0 0 1
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
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
Fulgent Genetics, Fulgent Genetics 9 49 544 118 13 0 0 733
Illumina Laboratory Services, Illumina 0 1 183 76 211 0 0 470
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 0 0 0 0 0 30 0 30
MVZ Medizinische Genetik Mainz 8 8 14 0 0 0 0 30
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
Johns Hopkins Genomics, Johns Hopkins University 1 2 5 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 0 8
GeneReviews 1 0 0 0 0 0 6 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 0 0 7
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 0 4
3billion, Medical Genetics 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
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
Yale Center for Mendelian Genomics, Yale University 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
Research Laboratory - Department of Internal Medicine and Hematology, Semmelweis University 0 2 0 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
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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