ClinVar Miner

Variants studied for amelogenesis imperfecta

Included ClinVar conditions (23):
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
93 6 6 0 2 6 110

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
FAM83H 14 0 1 2 3 20
AMELX, ARHGAP6 12 0 0 0 3 15
LAMB3 8 1 0 0 0 9
ACP4 7 0 0 0 0 7
ENAM 6 2 1 0 0 7
MMP20 4 1 3 0 0 7
WDR72 5 1 1 0 0 7
FAM20A, PRKAR1A 5 1 0 0 0 6
ODAPH 5 0 0 0 0 5
FAM20A 4 0 0 0 0 4
ITGB6 4 0 0 0 0 4
SLC24A4 4 0 0 0 0 4
DLX3 3 0 0 0 0 3
GPR68 3 0 0 0 0 3
KLK4 3 0 0 0 0 3
RELT 3 0 0 0 0 3
AMBN 2 0 0 0 0 2
AMTN 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 77 0 0 0 0 77
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 10 1 0 0 0 11
Medical Biology Lab, Gaziantep University 0 0 0 0 6 6
Illumina Clinical Services Laboratory,Illumina 0 1 5 0 0 6
Fulgent Genetics,Fulgent Genetics 3 1 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 2
Dental Genetics Laboratory,Seoul National University School of Dentistry 2 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics,University Hospital Ulm 1 0 0 0 0 1
Mendelics 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 1
The Fourth Military Medical University,School of Stomatology 1 0 0 0 0 1

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