ClinVar Miner

Variants studied for Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young

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
1 1 8 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
HNF4A 1 1 7 9
SCNN1B 0 0 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 2
OMIM 1 0 0 1
Baylor Genetics 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 1
3billion 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 1

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