ClinVar Miner

Variants studied for atrial fibrillation (disease)

Included ClinVar conditions (37):
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
49 8 563 169 68 18 829

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNA5 6 0 152 62 21 0 216
KCNQ1 9 1 84 30 8 4 134
KCNJ2 2 1 103 5 14 1 124
GJA5 7 0 62 15 2 0 82
MYL4 1 0 42 15 6 0 64
LOC114827827, NPPA 1 0 32 15 1 0 48
SCN2B 2 0 26 9 1 0 38
SCN5A 11 2 16 1 0 10 32
KCNE2 1 1 14 2 2 2 19
ABCC9 3 0 8 1 0 1 13
KCNQ1, KCNQ1OT1 0 0 5 6 2 0 13
TTN 0 0 2 6 5 0 13
SCN1B 3 1 5 0 0 0 8
LOC110121269, SCN5A 1 0 3 0 0 0 4
NUP155 1 0 3 0 0 0 4
NPPA 1 0 1 1 0 0 3
BAG3 0 0 0 0 2 0 2
HCN4 0 0 1 0 1 0 2
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 1
AKAP9 0 0 0 0 1 0 1
ANK2 0 0 0 0 1 0 1
KCNH2 0 0 0 0 1 0 1
LAMA4 0 0 1 0 0 0 1
LOC101927055, TTN 0 0 0 1 0 0 1
MHRT, MYH7 0 0 1 0 0 0 1
NEBL 0 0 1 0 0 0 1
PITX2 0 1 0 0 0 0 1
SNTA1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 245 99 26 0 370
Illumina Clinical Services Laboratory,Illumina 0 0 268 61 31 0 360
Fulgent Genetics,Fulgent Genetics 10 2 33 0 0 0 45
OMIM 35 0 0 0 0 0 35
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 3 7 10 0 21
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 17 17
Baylor Genetics 4 1 6 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 4 0 8
CSER _CC_NCGL, University of Washington 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 1 1 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Toronto General Hospital,University of Toronto 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Pathophysiology of Heart Rhythm Disorders,Université Lyon 1 Claude Bernard 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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