ClinVar Miner

Variants studied for Xeroderma pigmentosum

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
9 1 343 82 47 482

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLH 0 0 110 19 6 135
ERCC4 0 0 65 17 13 95
BIVM-ERCC5, ERCC5 1 0 43 12 7 63
XPC 5 0 31 4 5 45
ERCC2 0 0 28 3 4 35
ERCC3 0 0 25 7 0 32
DDB2 0 0 19 1 1 21
XPA 3 1 11 4 2 21
TMEM43, XPC 0 0 1 13 6 20
ERCC1 0 0 4 2 3 9
ERCC2, KLC3 0 0 5 0 0 5
GTPBP2, POLH 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
Illumina Clinical Services Laboratory,Illumina 0 0 343 82 47 472
Integrated Genetics/Laboratory Corporation of America 9 1 0 0 0 10

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