ClinVar Miner

Variants studied for atrial fibrillation

Included ClinVar conditions (51):
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 risk factor not provided total
81 46 1264 472 89 1 20 1901

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCNA5 6 1 296 137 22 0 0 429
KCNQ1 20 18 121 36 8 0 4 202
GJA5 6 0 135 61 4 0 0 198
SCN5A 20 10 156 11 4 0 10 198
MYL4 5 8 103 67 8 0 0 190
KCNJ2 3 2 112 7 16 0 2 139
SCN2B 2 0 71 55 4 0 0 130
LOC114827827, NPPA 1 0 78 47 4 0 0 128
GJA5, LOC122128420 2 0 44 15 1 0 0 62
ABCC9 2 0 49 8 0 0 1 60
KCNE2, LOC105372791 1 1 25 3 2 0 2 31
SCN1B 3 3 21 4 0 0 1 30
LOC110121269, SCN5A 1 1 24 1 1 0 0 28
KCNQ1, KCNQ1OT1 0 0 7 8 2 0 0 17
TTN 0 0 2 6 4 0 0 12
NPPA 1 0 1 4 1 0 0 7
NUP155 1 0 5 0 1 0 0 7
SCN3B 4 0 0 0 0 0 0 4
KCNJ2, LOC130061539 0 0 3 0 0 0 0 3
BAG3 0 0 0 0 2 0 0 2
HCN4 0 0 1 0 1 0 0 2
KCNA1, KCNA5 0 0 2 0 0 0 0 2
MYBPC3 0 0 1 1 0 0 0 2
SCN4B 2 0 0 0 0 0 0 2
ABCG4, ARCN1, ATP5MG, BCL9L, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, DRC12, FOXR1, H2AX, HINFP, HMBS, HYOU1, IFT46, JAML, KMT2A, MPZL2, MPZL3, NHERF4, NLRX1, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 1
AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CLCN6, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, MAD2L2, MASP2, MTHFR, MTOR, NPPA, SRM, TARDBP, UBIAD1 0 0 1 0 0 0 0 1
AGTRAP, ANGPTL7, C1orf167, CLCN6, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, KIAA2013, MAD2L2, MASP2, MTHFR, MTOR, NPPA, NPPB, PLOD1, SRM, TARDBP, UBIAD1 0 0 1 0 0 0 0 1
AKAP9 0 0 0 0 1 0 0 1
ANK2 0 0 0 0 1 0 0 1
CORIN 1 0 0 0 0 0 0 1
KCNH2 0 0 0 0 1 0 0 1
LAMA4 0 0 1 0 0 0 0 1
LOC101927055, TTN 0 0 0 1 0 0 0 1
LOC126806430, TTN 0 0 0 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 0 0 1
MIB1 0 0 1 0 0 0 0 1
NEBL 0 0 1 0 0 0 0 1
PITX2 0 1 0 0 0 0 0 1
SNTA1 0 1 0 0 0 0 0 1
ZFHX3 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 7 651 366 40 0 0 1070
Fulgent Genetics, Fulgent Genetics 32 18 372 36 7 0 0 465
Illumina Laboratory Services, Illumina 0 0 267 61 31 0 0 359
OMIM 41 0 0 0 0 1 0 42
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 21 0 0 0 0 24
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 3 7 10 0 0 21
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 17 17
New York Genome Center 0 2 15 0 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 5 0 0 13
Baylor Genetics 3 1 8 0 0 0 0 12
Lildballe Lab, Aarhus University Hospital 0 5 1 1 0 0 0 7
Revvity Omics, Revvity 0 0 5 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 0 3
Blueprint Genetics 0 0 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 3 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 1 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 1 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
MVZ Medizinische Genetik Mainz 0 0 2 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
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Toronto General Hospital, University of Toronto 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Pathophysiology of Heart Rhythm Disorders, Université Lyon 1 Claude Bernard 0 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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

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