ClinVar Miner

Variants from Eye Genetics Research Group,Children's Medical Research Institute

Location: Australia — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
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
22 17 15 1 2 57

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYP1B1 2 0 4 0 0 6
GJA8 3 2 0 0 1 6
BCOR 2 0 1 0 0 3
BFSP1 0 1 2 0 0 3
CRYBB2 0 3 0 0 0 3
GJA3 2 1 0 0 0 3
MAF 0 3 0 0 0 3
PAX6 2 1 0 0 0 3
CRYAA 1 1 0 0 0 2
CRYAB 0 1 1 0 0 2
CRYBB3 1 1 0 0 0 2
CRYGC, LOC100507443 2 0 0 0 0 2
CRYGD, LOC100507443 2 0 0 0 0 2
MIP 2 0 0 0 0 2
NHS 2 0 0 0 0 2
NMNAT1 1 1 0 0 0 2
SLC16A12 0 0 2 0 0 2
ABCB6 0 0 1 0 0 1
CRYBA1 0 0 1 0 0 1
CRYBA4 0 0 0 0 1 1
CRYBB1 0 1 0 0 0 1
EPHA2 0 0 1 0 0 1
GDF3 0 0 1 0 0 1
OCRL 0 0 1 0 0 1
PXDN 0 0 0 1 0 1
VIM 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital cataract 17 16 5 1 2 41
Congenital ocular coloboma 0 0 7 0 0 7
Irido-corneo-trabecular dysgenesis 3 0 0 0 0 3
Cataract 1 1 0 0 0 0 1
Cataract, congenital zonular, with sutural opacities 0 0 1 0 0 1
Cataract, coppock-like 1 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 1
Cone/cone-rod dystrophy 0 1 0 0 0 1
Microphthalmia, isolated, with coloboma 6 0 0 1 0 0 1
Microphthalmia, isolated, with coloboma 7 0 0 1 0 0 1

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