ClinVar Miner

Variants studied for nephrolithiasis/osteoporosis, hypophosphatemic

Included ClinVar conditions (4):
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
9 6 49 33 32 116

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC34A1 5 5 40 20 22 89
F12, SLC34A1 0 0 0 10 9 13
NHERF1 2 1 6 1 0 8
NHERF1, SLC9A3R1 1 0 3 2 1 5
SLC34A3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 21 19 30 64
Fulgent Genetics, Fulgent Genetics 1 3 23 17 2 46
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Precision Medicine Center, Zhengzhou University 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 1 0 0 0 0 1
Arcensus 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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