ClinVar Miner

Variants studied for Ateleiotic dwarfism

Coded as:
Minimum submission review status: Collection method:
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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
9 2 5 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GH-LCR, GH1 3 0 4 7
CRIPT 2 0 0 2
GH1 2 0 0 2
BRCA2 1 0 0 1
CSHL1, GH-LCR, GH1 0 0 1 1
DNA2 0 1 0 1
POC1A 0 1 0 1
XRCC4 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 4 2 0 6
OMIM 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 3
Baylor Genetics 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 1

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