ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome type 1

Included ClinVar conditions (3):
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
53 12 50 10 27 147

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PITX2 52 11 49 10 27 144
ALPK1, ANK2, AP1AR, AP1AR-DT, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC112935973, LOC112935974, LOC112935975, LOC123477806, LOC123477807, LOC123477808, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC132089000, LOC132089001, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, NEUROG2, PITX2, TIFA, ZGRF1 0 1 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 1
PRDM5 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 38 0 25 63
Invitae 20 5 9 10 8 52
Human Developmental Genetics Laboratory, Medical College of Wisconsin 25 4 0 0 0 29
OMIM 9 0 1 0 0 10
Genetics and Molecular Pathology, SA Pathology 7 0 2 0 0 9
MGZ Medical Genetics Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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