ClinVar Miner

Variants studied for congenital diaphragmatic hernia

Included ClinVar conditions (10):
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 risk factor total
12 10 15 1 0 7 44

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
ZFPM2 6 0 4 0 0 9
MYRF 0 6 0 0 0 6
FREM2 0 2 0 0 2 4
​intergenic 1 0 2 0 0 3
FRAS1 0 0 0 0 3 3
GATA6 3 0 0 0 0 3
FGFRL1 0 0 2 0 0 2
CDK8 1 0 0 0 0 1
DEPDC5 0 0 1 0 0 1
DES 0 0 1 0 0 1
FBN1 0 1 0 0 0 1
FREM1 0 0 1 0 0 1
GLI3 0 0 0 0 1 1
LZTR1 0 0 1 0 0 1
MET 0 0 1 0 0 1
MN1 0 0 1 0 0 1
MYO15A 0 0 0 1 0 1
NIPBL 0 1 0 0 0 1
PAX3 0 0 1 0 0 1
PGAP3 1 0 0 0 0 1
ROBO4 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign risk factor total
Daryl Scott Lab,Baylor College of Medicine 2 2 2 0 7 13
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 4 0 0 5
OMIM 4 0 0 0 0 4
Dobyns Lab,Seattle Children's Research Institute 3 0 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 2 0 0 3
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 2 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 1 0 3
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 1

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