ClinVar Miner

Variants studied for chronic primary adrenal insufficiency

Included ClinVar conditions (19):
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
453 320 775 751 226 27 2335

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POR 55 22 192 391 30 1 640
NR0B1 90 15 41 141 37 0 309
CYP11B1, LOC106799833 44 77 59 26 12 6 188
CYP21A2, LOC106780800 46 43 54 10 30 10 168
CYP17A1 45 56 39 15 4 3 141
STAR 21 43 61 13 5 0 128
MC2R 16 3 67 10 25 0 121
CYP11B1 12 17 57 16 19 2 114
AAAS 25 12 50 7 8 0 98
HSD3B2 22 12 36 23 11 0 86
ASIC4, GMPPA 11 2 26 37 13 0 85
LOC126860075, POR 7 0 20 49 4 1 74
TXNRD2 1 2 15 2 9 0 28
NNT 15 3 5 0 5 0 27
CYP21A2 15 7 1 0 2 0 22
MRAP 8 0 4 2 2 0 16
MRAP, URB1 0 0 8 1 4 0 13
HSD3B2, LOC109029530 4 1 3 3 0 0 9
LOC129998680, POR 0 0 8 0 1 0 9
CYP17A1, LOC110408762 0 0 5 0 1 0 6
CYP21A2, LOC106780800, TNXB 3 0 1 0 3 3 6
LOC108863620, STAR 0 0 5 1 0 0 6
LOC125418060, MRAP 1 0 3 1 1 0 6
CYP11B1, LOC110673972 1 2 1 2 0 0 5
CYP21A2, LOC106780800, LOC110631417 1 3 0 0 0 1 5
AAAS, LOC130007973 0 0 3 1 0 0 4
CYP11A1 1 0 2 0 0 0 3
POR, TMEM120A 0 0 3 0 0 0 3
ABCD1 2 0 0 0 0 0 2
COMT, TXNRD2 0 0 2 0 0 0 2
LOC130066960, TXNRD2 0 0 2 0 0 0 2
AAAS, LOC130007972, LOC130007973, LOC130007974, MYG1 1 0 0 0 0 0 1
AAMP, ABCB6, ANKZF1, ARPC2, ASIC4, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CHPF, CNOT9, CNPPD1, CRYBA2, CTDSP1, CXCR1, CXCR2, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, GMPPA, GPBAR1, IHH, MIR26B, MIR375, NHEJ1, OBSL1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, SPEG, STK16, STK36, TMBIM1, TMEM198, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 0 0 1 0 0 0 1
CYP11B1, CYP11B2, LOC106799833, LOC106799834, LOC110673972 1 0 0 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863234, LOC126863235, LOC126863236, LOC129391296, LOC129391297, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863236, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC126863235, LOC126863236, LOC130068072, LOC130068073, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 84 20 187 603 82 0 976
Illumina Laboratory Services, Illumina 5 4 414 43 79 0 545
Fulgent Genetics, Fulgent Genetics 40 28 64 66 8 0 206
Baylor Genetics 65 76 10 0 0 0 151
OMIM 147 0 0 0 0 0 147
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 66 53 9 3 2 3 136
Natera, Inc. 29 8 26 31 10 0 104
Counsyl 17 48 24 0 0 0 89
Institute of Human Genetics, Medical University Innsbruck 4 5 23 5 26 0 63
Genome-Nilou Lab 2 1 3 3 35 0 44
3billion 22 10 8 3 0 0 43
Myriad Genetics, Inc. 9 29 1 0 0 0 39
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 34 0 0 0 0 0 34
Clinical Biochemistry Laboratory, Health Services Laboratory 12 11 5 0 0 0 28
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 11 6 8 1 0 0 26
Revvity Omics, Revvity 10 9 6 0 0 0 25
Juno Genomics, Hangzhou Juno Genomics, Inc 11 9 4 0 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 2 2 2 0 23
Neuberg Centre For Genomic Medicine, NCGM 7 6 10 0 0 0 23
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 6 14 0 0 0 21
GeneReviews 4 0 0 0 0 14 18
Mendelics 9 0 3 0 4 0 16
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 13 0 0 0 0 0 13
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 5 0 8 0 0 0 13
Lifecell International Pvt. Ltd 6 3 1 0 0 0 10
Molecular Endocrinology Laboratory, Christian Medical College 1 6 3 0 0 0 10
MGZ Medical Genetics Center 3 3 2 0 0 0 8
Pecori Giraldi Lab, University of Milan 0 0 0 2 6 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 7
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 6 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 1 0 0 0 6
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 2 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 2 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 0 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 1 0 0 0 4
GenePathDx, GenePath diagnostics 0 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 2 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
DASA 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 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 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 0 0 0 0 0 1 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Children’s Hospital, Clinical research laboratory, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Internal Medicine, University of Pretoria 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Genetics Unit, Juan Ramón Jiménez Hospital 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Obstetrics & Gynecology, Peking Union Medical College Hospital 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Institute Of Endocrinology, Diabetes, Thyroid & Osteoporosis Disorders, Sakra World Hospital, Unit Of Thakshasila Hospital Operating Private Limited 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Department of Medical Genetics, Kayseri City Hospital 0 1 0 0 0 0 1

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