ClinVar Miner

Variants studied for adrenocortical insufficiency

Included ClinVar conditions (19):
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 not provided total
414 290 767 748 225 27 2269

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 47 21 192 390 30 1 631
NR0B1 87 15 39 141 37 0 305
CYP11B1, LOC106799833 42 71 59 25 12 6 182
CYP21A2, LOC106780800 41 39 52 10 30 10 159
CYP17A1 36 47 38 15 4 3 126
STAR 20 42 60 13 5 0 126
MC2R 16 2 66 10 25 0 119
CYP11B1 11 16 57 16 19 2 112
AAAS 21 11 49 7 7 0 91
ASIC4, GMPPA 11 2 26 36 13 0 85
HSD3B2 22 11 36 23 11 0 85
LOC126860075, POR 7 0 20 49 4 1 74
TXNRD2 1 2 15 2 9 0 28
NNT 13 3 5 0 5 0 26
CYP21A2 11 4 1 0 2 0 16
MRAP 8 0 3 2 2 0 15
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
AAAS, LOC130007973 0 0 3 1 0 0 4
CYP11A1 1 0 2 0 0 0 3
CYP21A2, LOC106780800, LOC110631417 1 1 0 0 0 1 3
POR, TMEM120A 0 0 3 0 0 0 3
ABCD1 2 0 0 0 0 0 2
LOC130066960, TXNRD2 0 0 2 0 0 0 2
TBX19 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
COMT, TXNRD2 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: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 20 187 603 82 0 968
Illumina Laboratory Services, Illumina 5 3 415 43 79 0 545
Fulgent Genetics, Fulgent Genetics 40 28 64 66 8 0 206
OMIM 147 0 0 0 0 0 147
Baylor Genetics 51 64 9 0 0 0 124
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 47 43 9 3 2 3 107
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 1 0 0 41
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
Revvity Omics, Revvity 10 9 6 0 0 0 25
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 6 6 1 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 5 4 8 0 0 0 17
Mendelics 9 0 3 0 4 0 16
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 13 0 2 0 0 0 15
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 5 0 8 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 2 1 1 1 0 12
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
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
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
Athena Diagnostics Inc 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
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 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
Obstetrics & Gynecology, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 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

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