ClinVar Miner

Variants studied for nutritional deficiency disease

Included ClinVar conditions (41):
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 not provided total
1189 914 3808 5502 1002 1 81 11678

Gene and significance breakdown #

Total genes and gene combinations: 75
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
CUBN 66 68 655 434 155 0 3 1268
HCFC1 6 1 115 672 255 0 0 1035
ALDH7A1 127 80 341 389 52 0 4 921
MTR 58 29 199 574 66 0 0 914
HLCS 91 119 265 430 50 0 0 872
MTRR 76 30 159 481 50 0 1 779
BTD 167 169 194 200 14 0 6 605
TCN2 48 8 202 310 41 0 2 581
MMAA 81 61 171 198 22 0 16 499
MMACHC 95 75 112 190 10 0 3 430
AMN 28 28 59 295 25 0 1 420
LMBRD1 28 22 110 235 24 0 2 407
MMAB 62 45 131 174 36 0 12 397
PNPO 26 18 147 134 20 0 3 333
MMADHC 42 30 62 169 17 0 7 306
ABCD4 18 10 116 112 33 0 0 279
FOLR1 16 3 112 83 5 0 0 209
VDR 22 8 123 14 16 0 1 178
SLC52A1 3 0 107 56 12 0 0 177
TTPA 16 43 70 6 10 0 15 137
CBLIF 7 6 58 44 12 0 3 121
CD320 1 1 65 37 19 0 0 120
TCN1 4 0 44 46 9 0 0 103
CYP27B1 28 20 40 10 2 1 0 95
AMN, LOC130056554 5 5 13 62 1 0 0 84
MMAB, MVK 11 8 20 36 8 0 1 76
LOC129930446, MMACHC 23 12 14 18 0 0 0 57
LOC121853040, TCN2 1 0 19 18 4 0 0 41
HCFC1, LOC130068842 0 0 4 14 12 0 0 30
CYP2R1, PDE3B 4 3 12 8 0 0 0 25
PLPBP 10 4 8 0 1 0 0 22
AMN, LOC130056553 1 1 2 16 2 0 0 20
CUBN, LOC126860871 1 2 5 7 3 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 17
ALDH7A1, LOC112997555 0 0 12 1 2 0 0 15
LOC126806368, MMADHC 1 1 2 8 2 0 0 14
CUBN, LOC129390143 0 0 8 4 2 0 0 13
HLCS, LOC130066639 0 0 1 0 6 0 0 7
LOC113788277, PLPBP 0 0 6 0 0 0 0 6
LOC129993163, MMAA 0 0 5 0 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 0 5
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 4
LOC130007784, VDR 0 0 2 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 2
ALDH7A1, LOC129994503 0 0 0 0 1 0 0 1
ALDH7A1, PHAX 1 0 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 0 1
ANAPC15, DEFB108B, DHCR7, FAM86C1P, FOLR1, FOLR3, IL18BP, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LRTOMT, NADSYN1, NUMA1, RNF121, ZNF705E 0 0 1 0 0 0 0 1
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 1 0 0 0 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 0 0 1
CLPB, FOLR1, FOLR2, INPPL1, PHOX2A 1 0 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 0 1
CYP2R1, LOC130005371, PDE3B 0 0 0 1 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 1
GAD1 0 0 1 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 0 1
LOC121852937, PNPO 0 0 0 1 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 0 1
LRP5 0 0 1 0 0 0 0 1
MLKL 0 0 0 1 0 0 0 1
PHEX, PTCHD1 0 1 0 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 1
PNKP 0 0 1 0 0 0 0 1
POMT1 0 0 1 0 0 0 0 1
PRDX1 0 0 0 0 1 0 0 1
PRSS1, TRB 1 0 0 0 0 0 0 1
SCN2A 0 0 1 0 0 0 0 1
TF 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 151
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 891 265 2492 5315 794 0 0 9757
Illumina Laboratory Services, Illumina 12 7 966 110 274 0 0 1369
Baylor Genetics 192 234 49 0 0 0 0 475
Fulgent Genetics, Fulgent Genetics 59 36 249 115 6 0 0 465
Natera, Inc. 64 19 217 70 73 0 0 443
Genome-Nilou Lab 54 38 129 53 116 0 0 390
Counsyl 41 131 124 7 0 0 0 303
Revvity Omics, Revvity 50 30 103 1 0 0 0 184
OMIM 169 0 1 0 0 0 0 170
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 106 64 0 0 0 0 0 170
Myriad Genetics, Inc. 14 60 4 0 0 0 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 2 12 11 35 0 0 70
Mendelics 29 11 9 4 10 0 0 63
GeneReviews 2 0 0 0 0 0 56 58
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 0 49
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 17 11 18 0 1 0 0 47
Neuberg Centre For Genomic Medicine, NCGM 13 17 15 0 1 0 0 46
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 2 13 0 0 0 0 36
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 0 33
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 11 13 0 0 0 0 31
3billion 14 5 7 1 0 0 0 27
Pars Genome Lab 0 0 1 3 20 0 0 24
New York Genome Center 4 3 15 0 0 0 0 22
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 6 0 0 0 0 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 3 7 1 0 0 0 20
University Children's Hospital, University of Zurich 19 0 1 0 0 0 0 20
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 7 1 0 0 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 10 4 2 0 0 0 0 16
MGZ Medical Genetics Center 6 4 5 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 5 2 7 1 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 1 2 0 0 0 0 14
Elsea Laboratory, Baylor College of Medicine 7 0 6 0 0 0 0 13
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 12 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 8 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 2 3 0 0 0 0 12
SingHealth Duke-NUS Institute of Precision Medicine 2 3 6 0 0 0 0 11
Center of Excellence for Medical Genomics, Chulalongkorn University 7 4 0 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 1 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 10 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 3 2 0 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 4 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 7 0 0 0 0 9
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 7 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 8
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 2 0 0 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 3 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 3 0 0 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 0 0 0 0 0 0 7
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 4 1 2 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 2 3 0 0 7
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 3 1 2 0 0 0 0 6
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 3 0 0 6
Lifecell International Pvt. Ltd 3 3 0 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Suma Genomics 4 1 1 0 0 0 0 6
MVZ Medizinische Genetik Mainz 4 1 1 0 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 5 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 4 0 1 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 2 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 0 5
DASA 5 0 0 0 0 0 0 5
Arcensus 1 4 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 3 0 0 0 0 4
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 2 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 2 1 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 1 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 0 2 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 1 0 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 3 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 3 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 3 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 2
American University of Beirut, Same Uiversity Hospital 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 1 0 0 0 0 2
Dr.Nikuei Genetic Center 1 1 0 0 0 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 1
Sidra Medicine 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 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 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 1
Biochemistry and Molecular Biology, CHU de Limoges 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 1 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 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 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 0 1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako 0 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.