ClinVar Miner

Variants from Institute for Ophthalmic Research,University Tuebingen

Location: Germany — Primary collection method: research
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
124 22 15 0 0 160

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CNGB3 82 11 7 99
GNAT2 11 4 7 22
CNGA3 9 3 1 13
ATF6 8 0 0 8
CRB1 3 0 0 3
ABCA4 1 0 0 1
ADGRV1 1 0 0 1
AHR 0 1 0 1
BLOC1S1-RDH5, RDH5 1 0 0 1
COL18A1, SLC19A1 1 0 0 1
COL9A2 0 1 0 1
FAM161A 1 0 0 1
GALK1 1 0 0 1
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 1
PXDN 0 1 0 1
RLBP1 1 0 0 1
RPGRIP1 1 0 0 1
SNX10 0 1 0 1
SPATA7 1 0 0 1
VSX2 1 0 0 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance total
Achromatopsia 3 81 11 6 98
Achromatopsia 4 11 4 7 22
Achromatopsia 14 3 3 20
Achromatopsia 7 8 0 0 8
Early-onset retinal dystrophy 3 0 0 3
Anterior segment dysgenesis 0 1 0 1
Cone monochromatism 1 0 0 1
Galactokinase deficiency with cataracts 1 0 0 1
Infantile nystagmus with foveal hypoplasia 0 1 0 1
Infantile osteopetrosis 0 1 0 1
Knobloch syndrome 1 1 0 0 1
Leber congenital amaurosis 1 0 0 1
Microphthalmia; Anophthalmia 1 0 0 1
Pigmentary retinal dystrophy 1 0 0 1
Retinitis pigmentosa 1 0 0 1
Retinitis pigmentosa, juvenile 1 0 0 1
Retinitis pigmentosa; Retinitis punctata albescens 1 0 0 1
Stargardt disease 1 0 0 1
Stickler syndrome 0 1 0 1
Usher syndrome 1 0 0 1

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