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
6 2 171 172 78 2 45 380

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
not provided 2 1 91 82 63 0 1 220
not specified 0 0 11 88 39 0 0 125
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 85 10 1 0 0 97
Seizures 1 0 11 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
Inborn genetic diseases 0 0 2 0 0 0 0 2
Nicotine addiction, protection against 0 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
GeneDx 2 1 71 88 56 0 0 218
Invitae 1 0 85 81 30 0 0 197
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 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
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
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

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