ClinVar Miner

Variants studied for Primary hyperoxaluria, type I

Coded as:
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
183 38 65 2 3 256

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AGXT 182 38 65 2 3 255
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LOC100130449, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Biochemistry Laboratory,Health Services Laboratory 180 0 55 0 0 235
Counsyl 12 37 10 2 1 62
OMIM 12 0 0 0 2 14
GeneReviews 11 0 0 0 2 13
Fulgent Genetics 3 0 1 0 0 4
Illumina Clinical Services Laboratory,Illumina 1 0 2 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1

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