ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome

Included ClinVar conditions (6):
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
43 10 21 16 9 97

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOXC1 23 6 10 4 6 48
PITX2 16 3 10 9 3 40
​intergenic 1 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FAM207A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SPATC1L, YBEY 1 0 0 0 0 1
CHST5 0 0 0 1 0 1
DACT1 0 0 0 1 0 1
ENPEP, PITX2 1 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 1
FRAS1 0 0 0 1 0 1
PRDM5 0 0 1 0 0 1
PTCH1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 8 7 4 8 34
Molecular Pathology, SA Pathology 20 1 5 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 0 8 9 1 18
OMIM 14 0 1 0 0 15
Paul Sabatier University EA-4555, Paul Sabatier University 0 1 0 3 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1

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