ClinVar Miner

Variants studied for alopecia

Included ClinVar conditions (26):
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
77 5 86 40 17 2 222

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HR 15 0 62 20 9 0 105
SHOC2 2 1 18 20 5 1 45
DSG1, DSG4 7 0 2 0 0 1 10
LPAR6, RB1 7 1 0 0 0 0 7
MBTPS2 6 0 1 0 0 0 7
ALX4 4 0 2 0 0 0 6
PADI3 6 0 0 0 1 0 6
ST14 4 0 0 0 2 0 6
LIPH 4 1 0 0 0 0 5
PPP1CB 5 0 0 0 0 0 5
CDSN, PSORS1C1 2 0 0 0 0 0 2
EDNRA 2 0 0 0 0 0 2
LPAR6 2 0 0 0 0 0 2
AHSG 1 0 0 0 0 0 1
APCDD1 1 0 0 0 0 0 1
DSC3 1 0 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
GJB2 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
RBM28 1 0 0 0 0 0 1
RPL21 1 0 0 0 0 0 1
SASH1 0 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 80 40 14 0 134
OMIM 64 0 1 0 1 0 66
Molecular Dermatology Lab,Tel Aviv Sourasky Medical Center 6 0 0 0 0 0 6
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Fulgent Genetics 1 0 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Division of Genomic Diagnostics,The 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
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
HudsonAlpha Institute for Biotechnology 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
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Uitto Lab,Thomas Jefferson University 1 0 0 0 0 0 1

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