ClinVar Miner

Variants studied for Zellweger spectrum disorders

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
211 58 606 825 92 1 1741

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX1 129 33 320 545 39 0 1027
GATAD1, PEX1 51 16 105 230 16 1 406
PEX6 6 5 85 14 19 0 129
PEX10 7 0 56 11 11 0 85
LOC129998796, PEX1 13 0 11 21 1 0 46
PEX2 5 1 29 4 5 0 44
PEX19 0 2 0 0 0 0 2
LOC129998796, PEX1, RBM48 0 0 0 0 1 0 1
PEX5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 192 45 402 780 57 0 1476
Natera, Inc. 38 16 277 71 58 0 460
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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