ClinVar Miner

Variants studied for congenital stationary night blindness

Included ClinVar conditions (19):
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 not provided total
80 33 51 24 8 2 194

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRPM1 10 12 10 0 0 0 31
SAG 5 1 12 8 2 0 28
GPR179 9 3 8 6 2 0 27
NYX 6 1 8 6 3 0 24
CACNA1F 8 9 2 0 0 0 19
GRM6, LOC100130798 5 0 2 2 1 1 11
GRK1 4 1 1 1 0 0 7
SLC24A1 5 0 2 0 0 0 7
CABP4 5 0 0 1 0 0 6
GRM6 4 2 1 0 0 0 6
LRIT3 4 0 1 0 0 1 6
GNAT1 4 0 2 0 0 0 5
RHO 5 0 0 0 0 0 5
ABCA4 1 1 0 0 0 0 2
GNB3 2 0 0 0 0 0 2
PDE6B 1 1 0 0 0 0 2
USH2A 1 0 1 0 0 0 2
CDCA3, GNB3 1 0 0 0 0 0 1
LRIT3, RRH 0 0 1 0 0 0 1
RBP3 0 1 0 0 0 0 1
RPGR 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 69 0 0 0 0 0 69
Illumina Clinical Services Laboratory,Illumina 0 0 38 14 5 0 57
NIHR Bioresource Rare Diseases,University of Cambridge 5 22 0 0 0 0 27
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 10 3 0 14
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 2 3 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 1 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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