ClinVar Miner

Variants studied for Zellweger syndrome

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 total
67 23 169 252 72 569

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
PEX1 38 11 84 177 33 332
GATAD1, PEX1 18 8 37 63 13 136
PEX6 2 3 16 4 16 41
PEX10 3 0 23 6 6 38
PEX2 5 1 9 2 3 20
PEX1, RBM48 0 0 0 0 1 1
PEX10, PLCH2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 55 18 97 236 47 453
Natera, Inc. 11 5 76 21 32 145
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 1

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