ClinVar Miner

Variants studied for Nephrolithiasis/nephrocalcinosis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
20 16 741 837 23 1637

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 total
CASR 19 12 628 778 16 1453
GRHPR 0 0 54 25 0 79
OCRL 1 2 47 22 6 78
PRPS1 0 0 7 9 0 16
HPRT1 0 2 3 2 1 8
LOC113875008, OCRL 0 0 1 1 0 2
SLC34A3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 20 16 740 837 23 1636
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1

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