ClinVar Miner

Variants studied for atypical hemolytic-uremic syndrome

Included ClinVar conditions (15):
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
52 55 434 227 259 30 6 969

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 8 105 77 70 4 0 246
CFH 18 14 100 53 56 9 3 222
CFI 8 10 60 31 27 6 1 126
THBD 1 1 64 10 38 3 0 112
CD46 10 8 53 8 10 6 0 89
CFB 1 0 29 11 13 2 0 51
C2, CFB 0 0 1 18 15 0 0 27
CFHR5 1 0 5 8 2 0 0 16
DGKE 4 9 2 0 0 0 0 14
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
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
CFHR1 0 0 2 0 0 0 0 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 1 182 78 211 0 0 471
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 0 0 0 0 0 30 0 30
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 0 13
Medizinische Genetik Mainz, Limbach Genetics GmbH 3 2 6 0 0 0 0 11
Baylor Genetics 1 1 7 0 0 0 0 9
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
Mendelics 0 1 2 1 2 0 0 6
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 0 5
3billion 1 1 2 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 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
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
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

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