ClinVar Miner

Variants studied for Hypophosphatemic rickets, autosomal recessive, 2

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 not provided total
7 2 95 18 60 2 182

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENPP1 7 2 95 18 60 2 182

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 94 18 58 0 170
OMIM 4 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1
Genomenon, Inc, Genomenon, Inc 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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