ClinVar Miner

Variants studied for Renal dysplasia and retinal aplasia

Coded as:
Minimum submission review status: Collection method:
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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
0 0 223 32 14 269

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination uncertain significance likely benign benign total
NPHP4 81 17 2 100
CEP290 68 7 4 79
IQCB1 23 3 4 30
SDCCAG8 21 1 3 25
NPHP1 20 3 1 24
AKT3, SDCCAG8 6 0 0 6
C12orf29, CEP290 4 1 0 5

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 223 32 14 269

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