ClinVar Miner

Variants studied for disorder of vitamin and non-protein cofactor absorption and transport

Included ClinVar conditions (39):
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
981 556 3285 5104 996 67 10409

Gene and significance breakdown #

Total genes and gene combinations: 65
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 66 68 655 434 155 3 1268
HCFC1 6 1 115 672 255 0 1035
MTR 58 29 199 574 66 0 914
MTRR 76 30 159 481 50 1 779
MTHFR 140 58 166 413 38 3 752
SLC19A3 56 21 260 227 46 1 585
TCN2 48 8 202 310 41 2 581
MMAA 81 61 171 198 22 16 499
MMACHC 95 75 112 190 10 3 430
AMN 27 28 59 295 25 1 419
LMBRD1 28 22 110 235 24 2 407
MMAB 62 45 131 174 36 12 397
MMADHC 42 30 62 169 17 7 306
ABCD4 18 10 116 112 33 0 279
TPK1 29 14 106 89 4 0 236
FTCD 11 4 94 90 35 1 229
FOLR1 16 3 112 83 5 0 209
CBLIF 7 6 58 44 12 3 121
CD320 1 1 65 37 19 0 120
SARM1, SLC46A1 4 1 72 10 23 4 111
TCN1 4 0 44 46 9 0 103
AMN, LOC130056554 5 5 13 62 1 0 84
SLC19A2 15 3 51 2 12 0 83
MMAB, MVK 11 8 20 36 8 1 76
LOC129930446, MMACHC 23 12 14 18 0 0 57
LOC121853040, TCN2 1 0 19 18 4 0 41
SLC46A1 8 1 19 4 2 4 35
SLC25A19 9 2 15 5 3 2 34
HCFC1, LOC130068842 0 0 4 14 12 0 30
AMN, LOC130056553 1 1 2 16 2 0 20
MIF4GD-DT, SLC25A19 3 0 7 3 6 0 19
CUBN, LOC126860871 1 2 5 7 3 0 17
LOC129932886, MTR 1 1 2 13 0 0 17
COL6A2, FTCD 0 0 4 10 3 0 16
LOC126806368, MMADHC 1 1 2 8 2 0 14
CUBN, LOC129390143 0 0 8 4 2 0 13
DHFR, MSH3 0 0 0 0 9 0 9
LOC129931894, SLC19A2 2 0 7 0 0 0 9
LOC130060550, SLC46A1 1 1 4 0 0 0 6
LOC129993163, MMAA 0 0 5 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 5
MTHFS, ST20-MTHFS 5 2 0 0 0 0 5
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 4
DHFR 2 0 1 0 0 0 3
NOBOX, TPK1 1 0 2 0 0 0 3
BCO1 1 0 1 0 0 0 2
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 2
SLC19A1 2 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 2
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 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 1
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 1 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 1
C2orf83, SLC19A3 1 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
CLPB, FOLR1, FOLR2, INPPL1, PHOX2A 1 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 1
PRDX1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 700 208 2315 4938 804 0 8965
Illumina Laboratory Services, Illumina 8 3 756 112 256 0 1135
Fulgent Genetics, Fulgent Genetics 43 33 222 98 5 0 401
Natera, Inc. 40 15 160 67 56 0 338
Baylor Genetics 110 97 50 0 0 0 257
Genome-Nilou Lab 33 25 56 22 86 0 222
OMIM 154 0 0 0 0 0 154
Revvity Omics, Revvity 26 21 88 2 0 0 137
Counsyl 30 50 49 2 0 0 131
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 61 27 0 0 0 0 88
University Children's Hospital, University of Zurich 67 0 1 0 0 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 10 43 0 62
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
GeneReviews 0 0 0 0 0 43 43
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 33
Neuberg Centre For Genomic Medicine, NCGM 6 10 15 0 1 0 32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 1 12 0 0 0 29
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 11 11 0 0 0 28
Mendelics 11 3 4 2 7 0 27
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 8 11 0 1 0 27
Myriad Genetics, Inc. 6 16 1 0 0 0 23
Pars Genome Lab 0 0 1 2 20 0 23
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 4 6 1 0 0 21
3billion 10 3 4 2 0 0 19
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 15 15
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 5 2 0 0 0 15
New York Genome Center 2 1 12 0 0 0 15
Laboratory of Metabolic Disorders, Peking University First Hospital 12 0 0 0 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 7 3 2 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 4 0 0 0 0 10
MGZ Medical Genetics Center 1 4 5 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 5 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 1 5 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 6 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 2 3 0 0 0 10
Elsea Laboratory, Baylor College of Medicine 4 0 5 0 0 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 8 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 1 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 2 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 6 1 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 3 0 0 0 8
SingHealth Duke-NUS Institute of Precision Medicine 0 4 4 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 2 0 7
MVZ Medizinische Genetik Mainz 4 1 2 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 1 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 3 3 0 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Undiagnosed Diseases Network, NIH 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 1 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 1 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 3
Breda Genetics srl 1 1 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 3
Department of Human Genetics, Hannover Medical School 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 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 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 2 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
DASA 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 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 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 0 1 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Biochemistry and Molecular Biology, CHU de Limoges 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 1
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 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 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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