ClinVar Miner

Variants studied for Hypochondroplasia

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
24 0 3 3 0 29

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign total
FGFR3 22 3 3 27
​intergenic 2 0 0 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign total
GeneReviews 20 0 0 20
OMIM 12 0 0 12
Mendelics 2 1 3 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 2
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 1

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