ClinVar Miner

Variants studied for Fragile X 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 other total
10 0 0 1 2 2 15

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely benign benign other total
FMR1 8 1 2 2 13
ADGB, GRM1, LOC101928661, LOC114004398, RAB32 1 0 0 0 1
FMR1, FRAXA, LOC107032825 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely benign benign other total
OMIM 5 0 0 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 1 2 4
Mendelics 0 1 1 0 2
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 2 0 0 0 2
MIND Institute, Wet lab,University of California Davis 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 1

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