ClinVar Miner

Variants studied for keratosis

Included ClinVar conditions (103):
Minimum submission review status: Collection method:
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Gene type:
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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 pathogenic, low penetrance other not provided total
526 177 1583 1295 507 1 8 12 3925

Gene and significance breakdown #

Total genes and gene combinations: 82
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance other not provided total
MVK 62 17 141 253 14 0 0 1 478
WNT10A 88 20 95 279 14 1 0 2 458
DSP 5 17 324 66 37 0 0 0 440
CTSC 69 14 132 158 21 0 0 0 377
TAT 28 37 71 221 8 0 0 0 346
RHBDF2 2 1 179 30 65 0 0 1 252
SNAP29 5 3 100 13 33 0 0 0 148
GJB2 50 7 38 16 26 0 0 1 133
COG6 5 1 48 52 20 0 0 0 123
TRPV3 6 2 33 11 64 0 0 0 112
GJB6 4 2 66 32 16 0 0 0 107
SPATA22, TRPV3 0 0 52 2 53 0 0 0 107
KRT9 13 4 56 17 5 0 0 0 91
TRPM4 2 0 75 7 4 0 0 0 88
GJB3 5 0 37 13 28 0 0 0 81
LOC111413029, TAT 3 10 10 54 0 0 0 0 76
CTSC, LOC130006572 7 1 22 30 1 0 0 0 57
KRT1 7 1 14 7 20 0 0 0 49
SLURP1 11 1 13 2 1 0 0 0 27
KRT16 14 4 4 1 2 0 0 0 24
KRT6A 10 4 3 1 5 0 0 5 23
DSG1 9 4 4 1 2 0 0 0 20
NLRP1 4 0 8 4 3 0 0 1 20
ATP2A2 0 0 2 3 16 0 0 0 18
KRT6C 3 1 0 0 15 0 0 0 18
AAGAB 6 3 2 1 5 0 0 0 16
AP1B1 10 1 1 0 2 0 0 0 14
KRT17 13 2 0 1 0 0 0 1 14
GJB4 7 1 3 3 0 0 0 0 13
KRT14 4 3 0 1 5 0 0 0 13
KRT6B 4 1 0 1 5 0 0 0 10
LOC129935618, WNT10A 0 0 7 2 0 0 0 0 9
GRHL2 2 0 2 1 3 0 0 0 8
KANK2 1 0 4 3 0 0 0 0 8
MVD 4 1 2 0 1 0 0 0 8
KDSR 4 3 0 0 1 0 0 0 7
LOC129935619, WNT10A 0 0 6 1 0 0 0 0 7
LORICRIN 3 1 2 1 0 0 0 0 7
PIK3CA 4 0 3 0 0 0 0 0 7
SERPINB7 6 0 0 0 1 0 0 0 7
SMARCAD1 3 0 0 0 4 0 0 0 7
AQP5 5 1 0 0 0 0 0 0 6
GJA1 4 0 2 0 0 0 0 0 6
NOTCH1 0 0 0 0 0 0 6 0 6
PERP 6 0 0 0 0 0 0 0 6
PMVK 2 3 1 0 0 0 0 0 6
ATP2A2, LOC126861637 2 0 1 0 2 0 0 0 5
LOC129935625, WNT10A 0 0 2 3 0 0 0 0 5
MBTPS2 2 0 2 0 0 0 0 0 4
RSPO1 2 1 1 0 0 0 0 0 4
SLC17A9 2 0 2 0 0 0 0 0 4
DSG1, LOC126862720 0 0 0 2 1 0 0 0 3
FDPS, RUSC1 3 0 0 0 0 0 0 0 3
AAGAB, LOC130057363 2 0 0 0 0 0 0 0 2
F5 0 0 2 0 0 0 0 0 2
FGFR3 2 0 0 0 0 0 0 0 2
KRT83 1 1 0 1 0 0 0 0 2
MMAB, MVK 1 0 0 0 1 0 0 0 2
MYC 0 0 0 0 0 0 2 0 2
PI4KA, SNAP29 0 0 0 0 2 0 0 0 2
SERPINA12 2 0 0 0 0 0 0 0 2
TUFT1 2 0 0 0 0 0 0 0 2
ZBTB37 0 0 1 1 0 0 0 0 2
ADAR 0 0 1 0 0 0 0 0 1
ATP2A2, LOC126861638 0 0 0 0 1 0 0 0 1
BRCA1 1 0 0 0 0 0 0 0 1
COL20A1 0 0 1 0 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 0 0 1
CRYL1, GJB6 0 0 1 0 0 0 0 0 1
CTSC, GRM5, TYR 0 0 1 0 0 0 0 0 1
F13B 1 0 0 0 0 0 0 0 1
FAH 1 0 0 0 0 0 0 0 1
GGT2, SNAP29 0 1 0 0 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 0 0 1
LOC129935620, LOC129935621, LOC129935622, LOC129935623, LOC129935624, LOC129935625, WNT10A 1 0 0 0 0 0 0 0 1
LOC130059740, MVD 0 1 1 0 0 0 0 0 1
MBTPS2, YY2 0 0 1 0 0 0 0 0 1
MMAB, MVK, UBE3B 0 0 1 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 1
NIPAL4 0 1 0 0 0 0 0 0 1
RABGAP1L 0 1 0 0 0 0 0 0 1
SART3 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 232 43 426 1043 77 1 0 0 1822
Illumina Laboratory Services, Illumina 1 1 641 153 348 0 0 0 1143
Fulgent Genetics, Fulgent Genetics 62 29 351 89 18 0 0 0 549
OMIM 232 0 2 0 0 0 0 0 234
Baylor Genetics 7 23 146 1 0 0 0 0 177
Genome-Nilou Lab 0 1 3 1 99 0 0 0 103
Natera, Inc. 4 0 22 13 6 0 0 0 45
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 18 6 0 0 0 24
Counsyl 1 14 8 0 0 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 9 7 4 0 0 0 0 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 13 0 0 0 0 0 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 8 10 0 0 0 0 0 18
Mendelics 4 4 3 1 3 0 0 0 15
Revvity Omics, Revvity 9 4 1 0 0 0 0 0 14
3billion 9 3 1 0 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 4 0 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 5 3 4 0 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 0 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 5 0 0 0 0 0 9
Myriad Genetics, Inc. 0 9 0 0 0 0 0 0 9
Department of Human Genetics, Nagasaki University 0 0 0 0 0 0 8 0 8
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 0 0 6 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 5 0 0 0 0 0 6
Phenosystems SA 1 1 3 1 0 0 0 0 6
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine 2 3 1 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 1 0 0 0 0 0 5
Department of Prosthodontics, Peking University School and Hospital of Stomatology 5 0 0 0 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 3 2 0 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 5 0 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 0 5 0 0 0 0 0 0 5
New York Genome Center 1 1 3 0 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 2 1 1 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 3 3
Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University 3 0 0 0 0 0 0 0 3
Institute for Human Genetics, University Medical Center Freiburg 2 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 0 2
State Key Laboratory Of Oral Diseases, Sichuan University 2 0 0 0 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 1 0 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Faculty of Allied and Health Sciences, Imperial College of Business Studies 1 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 0 0 1
Institute of Dermatology, Anhui Medical University 0 1 0 0 0 0 0 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Medical Genetics Research Center, Mashhad University of Medical Sciences 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 1 0 0 0 0 0 1

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