ClinVar Miner

Variants from Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

Location: Mexico  Primary collection method: research
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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
48 16 3 0 0 67

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCA4 9 9 0 18
USH2A 15 3 0 18
TEK 5 1 3 9
PROM1 6 0 0 6
PRPH2 2 1 0 3
ABCA4, LOC126805794 2 0 0 2
LRIT3 2 0 0 2
ADAM9, LOC130000261 1 0 0 1
BEST1 0 1 0 1
CERKL 1 0 0 1
CHRDL1 1 0 0 1
CRX 1 0 0 1
CYP2U1 1 0 0 1
LOC122152296, USH2A 1 0 0 1
PCARE 1 0 0 1
UNC119 0 1 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance total
Stargardt disease 24 9 0 33
Usher syndrome type 2 16 3 0 19
Glaucoma 3, primary congenital, E 5 1 3 9
Patterned macular dystrophy 1 1 1 0 2
Autosomal recessive bestrophinopathy 0 1 0 1
Cone-rod dystrophy 1 0 0 1
Hereditary spastic paraplegia 56 1 0 0 1
Isolated congenital megalocornea 1 0 0 1
Macular dystrophy 0 1 0 1

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