ClinVar Miner

Variants studied for 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
479 388 960 789 226 27 2632

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POR 62 38 197 412 30 1 681
NR0B1 95 15 62 145 37 0 339
CYP11B1, LOC106799833 44 89 111 28 12 6 252
CYP21A2, LOC106780800 48 46 59 10 30 10 176
STAR 25 53 92 13 5 0 170
CYP17A1 45 56 39 15 4 3 141
CYP11B1 12 20 77 16 19 2 135
MC2R 17 4 69 10 25 0 124
HSD3B2 22 22 61 23 11 0 122
AAAS 30 20 50 7 8 0 110
ASIC4, GMPPA 11 2 31 43 13 0 95
LOC126860075, POR 7 1 22 53 4 1 81
NNT 15 3 8 0 5 0 30
TXNRD2 1 2 18 2 9 0 30
CYP21A2 16 6 1 0 2 0 22
HSD3B2, LOC109029530 5 2 8 3 0 0 16
MRAP 8 0 4 2 2 0 16
CYP11B1, LOC110673972 1 4 6 3 0 0 13
MRAP, URB1 0 0 8 1 4 0 13
LOC129998680, POR 0 0 8 0 1 0 9
LOC108863620, STAR 0 1 5 1 0 0 7
CYP17A1, LOC110408762 0 0 5 0 1 0 6
CYP21A2, LOC106780800, TNXB 3 0 1 0 3 3 6
LOC125418060, MRAP 1 0 3 1 1 0 6
AAAS, LOC130007973 0 1 3 1 0 0 5
CYP21A2, LOC106780800, LOC110631417 1 3 0 0 0 1 5
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
MSH2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 95 21 206 638 82 0 1042
Illumina Laboratory Services, Illumina 5 4 414 43 79 0 545
Fulgent Genetics, Fulgent Genetics 72 111 230 69 8 0 490
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 70 52 9 3 2 3 139
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 16 11 15 1 1 0 44
Genome-Nilou Lab 2 1 3 3 35 0 44
3billion, Medical Genetics 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
Juno Genomics, Hangzhou Juno Genomics, Inc 13 9 4 0 0 0 26
Revvity Omics, Revvity 10 9 6 0 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 7 7 11 0 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 2 2 2 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
New York Genome Center 1 0 1 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
Department of Obstetrics and Gynecology, Sichuan Jinxin Women and Children's Hospital 0 2 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 Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 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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