ClinVar Miner

Variants studied for atrial fibrillation

Included ClinVar conditions (49):
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
79 39 1256 470 89 1 20 1884

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCNA5 6 1 294 137 22 0 0 427
KCNQ1 20 14 121 36 8 0 4 200
GJA5 5 0 136 61 4 0 0 198
SCN5A 20 8 156 10 4 0 10 195
MYL4 4 7 103 67 8 0 0 188
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 48 8 0 0 1 59
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 3 0 1 0 0 5
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
SCN4B 2 0 0 0 0 0 0 2
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
KCNA1, KCNA5 0 0 1 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
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: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 4 7 649 366 40 0 0 1066
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 1 15 0 0 0 0 16
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
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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 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
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
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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