ClinVar Miner

Variants studied for adenoma

Included ClinVar conditions (27):
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 total
57 54 55 23 17 189

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AIP 14 49 20 19 17 104
CDH23 6 1 15 0 0 22
APC 4 0 9 4 0 17
GNAS 7 0 2 0 0 9
HNF1A 4 0 2 0 0 6
MEN1 4 2 0 0 0 6
C10orf105, CDH23 1 0 4 0 0 5
USP8 5 0 0 0 0 5
ATP1A1 3 0 0 0 0 3
ATP2B3 3 0 0 0 0 3
GNAI2 1 0 1 0 0 2
GPR101 2 0 2 0 0 2
CASR 0 1 0 0 0 1
CDC73 1 0 0 0 0 1
LRP2 0 1 0 0 0 1
MINPP1 1 0 0 0 0 1
MT-ND6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneReviews 7 48 5 9 0 69
Illumina Clinical Services Laboratory,Illumina 0 0 11 10 17 38
OMIM 30 0 0 0 0 30
Fulgent Genetics,Fulgent Genetics 8 1 18 0 0 27
CSER _CC_NCGL, University of Washington 0 0 9 4 0 13
Institute of Human Genetics, Klinikum rechts der Isar 11 0 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 2 4 0 0 10
Aziz Sancar Institute of Experimental Medicine,Istanbul University 2 2 0 0 0 4
Mendelics 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Korbonits Lab,Queen Mary University of London 0 1 1 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1

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