ClinVar Miner

Variants studied for congenital non-bullous ichthyosiform erythroderma

Included ClinVar conditions (8):
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 not provided total
82 19 273 49 32 2 453

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NIPAL4 28 0 37 9 6 0 80
ALOX12B 17 8 47 2 2 0 74
PNPLA1 18 9 26 7 6 2 66
ALOXE3 10 2 41 6 3 0 62
ABCA12 0 0 44 10 7 0 61
CYP4F22 0 0 29 6 4 0 39
TGM1 2 0 27 3 0 0 32
ABCA12, SNHG31 0 0 19 6 4 0 29
CERS3 3 0 0 0 0 0 3
SULT2B1 3 0 0 0 0 0 3
LOC107882126, TGM1 0 0 2 0 0 0 2
ALOXE3, GUCY2D 1 0 0 0 0 0 1
LOC102724404, NIPAL4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 266 49 32 0 351
OMIM 32 0 1 0 0 0 33
Institute for Human Genetics,University Clinic Freiburg 28 0 0 0 0 0 28
Uitto Lab,Thomas Jefferson University 10 10 3 0 0 0 23
Yale Center for Mendelian Genomics,Yale University 14 0 0 0 0 2 16
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier 0 5 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Faculty of Health Sciences-Genetics Diagnosis Lab,Islamic University of Gaza 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1

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