ClinVar Miner

Variants studied for Lesch-Nyhan syndrome

Coded as:
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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 total
49 7 3 1 0 59

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
HPRT1 45 7 3 1 55
HPRT1, LOC107032760, LOC129929046, LOC129929047 2 0 0 0 2
HPRT1, LOC107032760, LOC129929047 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 40 0 0 0 40
Mendelics 2 2 0 1 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 1
3billion, Medical Genetics 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 1

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