ClinVar Miner

Variants studied for Leber congenital amaurosis

Coded as:
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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 not provided total
32 24 489 168 40 1 752

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRX 0 1 35 40 25 0 101
RD3 0 0 77 8 1 0 86
CEP290 2 1 68 7 4 0 82
AIPL1 1 0 43 35 0 0 79
LCA5 2 0 52 4 2 0 60
LRAT 0 0 44 7 0 0 51
RPGRIP1 6 4 29 10 2 0 51
CRB1 1 2 16 27 3 0 49
GIGYF2, KCNJ13 1 0 29 4 0 0 34
SPATA7 2 0 20 9 0 0 31
IMPDH1 0 0 21 8 0 0 29
RPE65 4 4 14 4 0 0 25
TULP1 0 0 17 3 3 0 23
USH2A 0 0 7 0 0 0 7
C12orf29, CEP290 0 0 4 1 0 0 5
NMNAT1 1 5 0 0 0 0 5
IQCB1 2 2 0 0 0 0 4
CNGB3 3 0 0 0 0 0 3
RP2 2 1 0 0 0 0 3
ABCA4 1 1 0 0 0 0 2
ADAMTS18 0 0 2 0 0 0 2
IMPDH1, LOC107986845 0 0 1 1 0 0 2
NPHP4 0 0 2 0 0 0 2
AHI1 1 0 0 0 0 0 1
CLUAP1 1 0 0 0 0 0 1
FSCN2 0 0 1 0 0 0 1
GPHN, RDH12 0 1 0 0 0 0 1
GUCA1B 0 0 1 0 0 0 1
GUCY2D 0 1 0 0 0 0 1
LOC100507291, RBP1 0 0 1 0 0 0 1
LRP5 0 0 1 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
NR2E3 1 0 0 0 0 0 1
PANK2 0 0 1 0 0 0 1
PDE6A 1 0 0 0 0 0 1
PEX1 0 0 0 0 0 1 1
RIMS1 0 0 1 0 0 0 1
SLC38A8 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 470 168 40 0 678
NIHR Bioresource Rare Diseases,University of Cambridge 8 16 0 0 0 0 24
Rui Chen Lab,Baylor College of Medicine 15 2 0 0 0 0 17
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2 5 6 0 0 0 13
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 12 0 0 0 12
Human Genetics - Radboudumc,Radboudumc 5 0 1 0 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 0 1

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