ClinVar Miner

Variants in gene CHRNA4

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Minimum submission review status: Collection method:
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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
6 2 228 191 78 2 45 440

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 2 0 140 76 29 0 0 247
not provided 2 1 93 42 36 0 1 172
not specified 0 0 11 89 39 0 0 126
Seizures 1 0 12 34 9 0 0 55
Tobacco use disorder 0 0 0 0 0 0 43 43
Epilepsy, nocturnal frontal lobe, type 1 6 1 7 0 4 0 1 18
Epilepsy, nocturnal frontal lobe, type 1; Tobacco addiction, susceptibility to 0 0 6 0 0 0 0 6
Amyotrophic lateral sclerosis 0 0 1 2 0 0 0 3
Inborn genetic diseases 0 0 2 0 0 0 0 2
Nicotine addiction, protection against 0 0 0 0 0 2 0 2
Epilepsy 0 0 1 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 2 0 140 101 30 0 0 273
GeneDx 2 1 71 88 56 0 0 218
Ambry Genetics 1 0 11 34 9 0 0 55
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 25 1 18 0 0 44
Psychiatry Genetics Yale University 0 0 0 0 0 0 43 43
Athena Diagnostics Inc 0 0 7 0 14 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 6 0 0 0 12
Genetic Services Laboratory,University of Chicago 0 0 1 10 0 0 0 11
PreventionGenetics,PreventionGenetics 0 0 0 1 9 0 0 10
OMIM 3 0 0 0 0 2 0 5
GeneReviews 5 0 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 0 0 1 3 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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
New York Genome Center 0 0 1 0 0 0 0 1

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