ClinVar Miner

Variants studied for alopecia

Included ClinVar conditions (30):
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
89 12 226 34 81 2 434

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HR 11 0 93 15 42 0 160
DSG1, DSG4 7 0 77 13 10 1 107
SHOC2 3 2 36 6 24 1 70
HR, HRURF 5 0 12 0 2 0 19
LSS 8 1 0 0 0 0 9
ALX4 5 0 3 0 0 0 8
LPAR6, RB1 7 1 0 0 0 0 7
ST14 4 1 0 0 2 0 7
PADI3 6 0 0 0 1 0 6
PPP1CB 5 2 0 0 0 0 6
LIPH 5 1 0 0 0 0 5
CDSN, PSORS1C1 3 0 1 0 0 0 4
RBM28 2 1 1 0 0 0 4
AHSG 2 0 1 0 0 0 3
DSC3 2 0 0 0 0 0 2
EDNRA 2 0 0 0 0 0 2
LPAR6 2 0 0 0 0 0 2
APCDD1 1 0 0 0 0 0 1
CNOT1 0 1 0 0 0 0 1
DSG4 1 0 0 0 0 0 1
EMILIN2, LPIN2, METTL4, MYL12A, MYL12B, MYOM1, NDC80, SMCHD1, TGIF1 0 0 1 0 0 0 1
EPS8L3 1 0 1 0 0 0 1
ERCC2 1 0 0 0 0 0 1
KRT25 1 0 0 0 0 0 1
KRT74 1 0 0 0 0 0 1
LOC112577531, SNRPE 1 0 0 0 0 0 1
RPL21 1 0 0 0 0 0 1
SASH1 1 1 0 0 0 0 1
SNRPE 1 0 0 0 0 0 1
TRPS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 213 33 77 0 323
OMIM 70 0 1 0 1 0 72
Baylor Genetics 4 1 6 0 0 0 11
Molecular Dermatology Lab,Tel Aviv Sourasky Medical Center 6 0 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 2 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Mendelics 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 1 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratoire de Biologie Moléculaire,Centre Hospitalo-Universitaire 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Human Genetics and Genome Research Division,National Research Centre 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
ClinGen RASopathy Variant Curation Expert Panel 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 1 0 0 0 0 0 1
Nilou-Genome Lab 0 1 0 0 0 0 1

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