ClinVar Miner

Variants in gene CHRNA2

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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 not provided total
3 3 424 307 93 3 732

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 0 0 269 256 21 0 546
not provided 0 1 119 48 40 0 192
Autosomal dominant nocturnal frontal lobe epilepsy 4 2 1 73 3 54 3 131
Inborn genetic diseases 0 0 43 45 9 0 97
not specified 0 0 11 31 17 0 52
CHRNA2-related condition 0 0 4 14 2 0 20
Sleep-related hypermotor epilepsy 0 0 10 3 2 0 15
Seizure 0 1 1 0 0 0 2
Intellectual disability 0 0 1 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1
Seizures, benign familial infantile, 6 1 0 0 0 0 0 1
myoclonic epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 269 256 21 0 546
GeneDx 0 0 86 60 48 0 194
Illumina Laboratory Services, Illumina 0 0 55 4 55 0 114
Ambry Genetics 0 0 43 45 9 0 97
Eurofins Ntd Llc (ga) 0 0 22 2 6 0 30
CeGaT Center for Human Genetics Tuebingen 0 1 14 8 7 0 30
PreventionGenetics, part of Exact Sciences 0 0 4 14 2 0 20
Athena Diagnostics Inc 0 0 4 2 3 0 9
Fulgent Genetics, Fulgent Genetics 0 0 8 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 1 6 0 0 7
Revvity Omics, Revvity 0 0 7 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 0 0 6
New York Genome Center 0 1 4 0 0 0 5
OMIM 3 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1

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