ClinVar Miner

Variants studied for autosomal recessive hypophosphatemic rickets

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 not provided total
19 4 151 30 76 2 276

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 not provided total
ENPP1 15 2 103 26 60 2 205
DMP1 4 2 48 4 16 0 71

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 139 21 73 0 233
Fulgent Genetics, Fulgent Genetics 1 3 26 10 2 0 42
OMIM 8 0 0 0 0 0 8
Genomenon, Inc 8 0 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Revvity Omics, Revvity 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 2 0 2
Mendelics 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1

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