ClinVar Miner

Variants studied for alopecia

Included ClinVar conditions (34):
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
91 8 235 33 80 2 440

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HR 17 0 105 15 44 0 180
DSG1, DSG4 7 0 77 13 10 1 107
SHOC2 3 2 34 5 23 1 66
LPAR6, RB1 7 1 0 0 0 0 7
LSS 7 0 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 5 1 0 0 0 0 5
PPP1CB 5 0 0 0 0 0 5
RBM28 2 1 0 0 0 0 3
CDSN, PSORS1C1 2 0 0 0 0 0 2
COL5A1 0 0 2 0 0 0 2
EDNRA 2 0 0 0 0 0 2
LPAR6 2 0 0 0 0 0 2
RYR1 0 0 2 0 0 0 2
AHSG 1 0 0 0 0 0 1
APCDD1 1 0 0 0 0 0 1
ASXL2 0 0 1 0 0 0 1
CEP290 0 0 1 0 0 0 1
CHD8 0 0 1 0 0 0 1
CNKSR2 0 0 1 0 0 0 1
DSC3 1 0 0 0 0 0 1
DSG4 1 0 0 0 0 0 1
DST 0 0 1 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
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
MBD5 0 0 1 0 0 0 1
MED13L 0 1 0 0 0 0 1
PLOD1 0 0 1 0 0 0 1
PTDSS1 0 0 1 0 0 0 1
RPL21 1 0 0 0 0 0 1
SASH1 1 1 0 0 0 0 1
SLC1A1, SPATA6L 0 0 1 0 0 0 1
SNRPE 1 0 0 0 0 0 1
TRPS1 0 1 0 0 0 0 1
WWOX 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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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 76 0 1 0 1 0 78
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 15 0 0 0 17
Molecular Dermatology Lab,Tel Aviv Sourasky Medical Center 6 0 0 0 0 0 6
Baylor Genetics 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 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
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, HudsonAlpha Institute for Biotechnology 1 0 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
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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