ClinVar Miner

Variants studied for Aicardi Goutieres 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
1 4 94 45 8 150

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KAT5, RNASEH2C 0 0 27 4 3 34
ATRIP, ATRIP-TREX1, TREX1 0 0 10 9 4 23
RNASEH2B 1 1 17 5 0 23
RNASEH2A 0 1 12 9 0 22
SAMHD1 0 1 8 9 0 18
RNASEH2C 0 0 15 2 0 17
SAMHD1, TLDC2 0 0 5 6 1 12
ADAR 0 1 0 1 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 1 0 94 45 8 148
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 0 0 4

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