ClinVar Miner

Variants in gene CHRNA4

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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 protective not provided total
3 6 431 446 120 2 47 870

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 2 0 283 354 47 0 0 686
not provided 2 3 144 107 83 0 1 321
Inborn genetic diseases 1 0 58 65 9 0 0 133
not specified 0 0 9 54 36 0 0 88
Autosomal dominant nocturnal frontal lobe epilepsy 1 3 2 37 0 9 0 4 52
Tobacco use disorder 0 0 0 0 0 0 43 43
CHRNA4-related condition 0 0 4 14 0 0 0 18
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 0 10 3 1 0 0 14
Amyotrophic lateral sclerosis 0 0 1 2 0 0 0 3
Nicotine addiction, protection against 0 0 0 0 0 2 0 2
Seizure 0 0 2 0 0 0 0 2
Developmental and epileptic encephalopathy 94 0 0 1 0 0 0 0 1
Frontotemporal dementia 0 1 0 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 2 0 283 355 47 0 0 687
GeneDx 2 3 104 124 103 0 0 336
Ambry Genetics 1 0 58 65 9 0 0 133
CeGaT Center for Human Genetics Tuebingen 0 0 14 31 5 0 0 50
Psychiatry Genetics Yale University 0 0 0 0 0 0 43 43
Eurofins Ntd Llc (ga) 0 0 24 1 17 0 0 42
PreventionGenetics, part of Exact Sciences 0 0 4 15 9 0 0 28
Athena Diagnostics Inc 0 0 6 0 15 0 0 21
Revvity Omics, Revvity 1 0 15 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 0 0 1 10 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 6 3 1 0 0 10
Genome-Nilou Lab 0 0 0 0 9 0 0 9
Baylor Genetics 0 0 8 0 0 0 0 8
OMIM 3 0 0 0 0 2 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 1 3 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1

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