ClinVar Miner

Variants studied for hyperinsulinism

Included ClinVar conditions (31):
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 likely risk allele uncertain risk allele total
201 313 966 393 89 2 9 1819

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
ABCC8 115 230 387 53 18 0 5 726
HADH 21 20 91 163 11 2 0 280
KCNJ11 12 29 128 11 6 0 1 168
GCK 22 17 78 25 9 0 0 150
GLUD1 12 5 83 48 15 0 0 149
HNF4A 2 3 75 25 14 0 0 119
SLC16A1 2 2 45 10 4 0 0 63
INSR 3 5 22 23 2 0 3 56
ABCC8, LOC110121471 4 1 13 8 2 0 0 27
GLUD1, SHLD2 0 0 10 7 0 0 0 17
GLUD1, LOC130004255, SHLD2 0 0 7 9 1 0 0 16
LOC129931218, SLC16A1 2 0 13 1 0 0 0 16
HADH, LOC129992931 1 0 8 2 4 0 0 12
GLUD1, LOC130004254 0 0 2 5 1 0 0 7
ABCC8, KCNJ11 0 0 3 3 2 0 0 6
CFAP61, CRNKL1, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, RALGAPA2, RIN2, SLC24A3, XRN2 1 1 0 0 0 0 0 2
BANF2, BFSP1, CD93, CFAP61, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, DSTN, DTD1, DZANK1, FOXA2, GGTLC1, GZF1, INSM1, KAT14, KIF16B, KIZ, MGME1, NAA20, NAPB, NKX2-2, NKX2-4, NXT1, OTOR, OVOL2, PAX1, PCSK2, PET117, POLR3F, RALGAPA2, RBBP9, RIN2, RRBP1, SCP2D1, SEC23B, SLC24A3, SNRPB2, SNX5, SSTR4, THBD, XRN2, ZNF133 1 0 0 0 0 0 0 1
CD93, CFAP61, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, FOXA2, GGTLC1, GZF1, INSM1, KIZ, NAPB, NKX2-2, NKX2-4, NXT1, PAX1, RALGAPA2, SSTR4, THBD, XRN2 1 0 0 0 0 0 0 1
CFAP61, CRNKL1, DTD1, DZANK1, FOXA2, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, POLR3F, RALGAPA2, RBBP9, RIN2, SCP2D1, SEC23B, SLC24A3, XRN2, ZNF133 1 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 1
HNF1A 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
Fulgent Genetics, Fulgent Genetics 57 95 339 60 5 0 0 554
Illumina Laboratory Services, Illumina 4 0 386 87 50 0 0 518
Labcorp Genetics (formerly Invitae), Labcorp 20 6 108 214 24 0 0 372
Counsyl 8 104 87 3 0 0 0 202
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 43 29 37 0 0 0 0 109
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 25 1 0 0 0 0 72
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 2 13 23 2 2 9 51
OMIM 48 0 0 0 0 0 0 48
Genetic Services Laboratory, University of Chicago 28 16 2 1 0 0 0 47
Myriad Genetics, Inc. 2 33 7 0 0 0 0 42
New York Genome Center 2 0 30 0 0 0 0 32
Pars Genome Lab 0 0 0 6 18 0 0 24
Baylor Genetics 4 10 8 0 0 0 0 22
Mendelics 6 3 3 3 1 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 6 0 0 0 0 15
3billion, Medical Genetics 5 3 2 0 0 0 0 10
Molecular Genetics, Madras Diabetes Research Foundation 3 5 2 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 4 1 5 0 0 0 0 10
Athena Diagnostics 0 0 0 0 9 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 4 0 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 1 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 2 0 5 1 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 1 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 2 0 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 2 0 0 0 0 6
Genome-Nilou Lab 1 0 1 1 3 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 0 5
Monogenic Research Group, University Of Exeter Medical School 4 1 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 0 0 4
NxGen MDx 0 3 1 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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