ClinVar Miner

Variants studied for bone resorption disease

Included ClinVar conditions (8):
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 risk factor total
17 2 37 21 31 3 102

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SLC34A1 3 0 21 9 21 0 54
F12, SLC34A1 0 0 0 11 9 0 14
COL1A1 7 1 4 0 0 0 12
COL1A2 4 0 6 0 0 0 10
LRP5 0 1 3 1 0 0 5
SLC9A3R1 3 0 3 0 1 0 4
WNT1 0 0 0 0 0 3 3

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 21 20 30 0 65
Fulgent Genetics,Fulgent Genetics 10 1 12 0 0 0 23
OMIM 6 0 0 0 0 3 9
Baylor Genetics 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 1 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1

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