ClinVar Miner

Variants studied for Aicardi Goutieres syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
10 16 59 16 4 103

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SAMHD1 5 8 47 9 0 68
ATRIP, ATRIP-TREX1, TREX1 1 0 5 4 4 14
RNASEH2B 3 2 0 1 0 5
RNASEH2C 1 0 2 1 0 4
LOC117038795, RNASEH2A 0 1 2 0 0 3
RNASEH2A 0 3 0 0 0 3
SAMHD1, TLDC2 0 0 2 0 0 2
ADAR 0 1 0 0 0 1
IFIH1 0 1 0 0 0 1
KAT5, RNASEH2C 0 0 0 1 0 1
LOC130009809, RNASEH2B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 4 1 49 9 0 63
Illumina Laboratory Services, Illumina 0 0 10 7 4 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 11 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 1

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