ClinVar Miner

Variants studied for obsolete adult hypophosphatasia

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
16 8 7 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ALPL 16 8 7 31

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Institute of Human Genetics, University of Leipzig Medical Center 3 1 6 10
Fulgent Genetics,Fulgent Genetics 5 2 0 7
OMIM 6 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 4 1 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 0 3
Centogene AG - the Rare Disease Company 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1

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