ClinVar Miner

Variants studied for Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria

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
0 0 4 0 0 1 4

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination uncertain significance not provided total
NLRP3 4 1 4

Submitter and significance breakdown #

Total submitters: 2
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Submitter uncertain significance not provided total
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 4
GenomeConnect, ClinGen 0 1 1

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