ClinVar Miner

Variants studied for Atrophia bulborum hereditaria

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Gene type:
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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
22 9 1 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NDP 20 9 1 29
FZD4, PRSS23 1 0 0 1
TSPAN12 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 16 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 2
3billion 0 1 1 2
DBGen Ocular Genomics 1 1 0 2
Mendelics 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 1
Erez Levanon lab, Bar Ilan University 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 1
Molecular Medicine, University of Pavia 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1

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