ClinVar Miner

Variants studied for N-terminal acetyltransferase deficiency

Coded as:
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 total
11 4 0 0 0 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
NAA10 11 4 14

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic total
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 5 0 5
OMIM 4 0 4
Baylor Genetics 1 1 2
Institute of Human Genetics,Klinikum rechts der Isar 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 1 0 1
TIDEX, University of British Columbia 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 1

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