ClinVar Miner

Variants studied for cardiac rhythm disease

Included ClinVar conditions (188):
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
830 418 6691 2929 1009 5 1191 11793

Gene and significance breakdown #

Total genes and gene combinations: 138
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RYR2 40 70 1324 540 144 0 2 2032
SCN5A 167 102 1009 535 92 0 385 1842
KCNH2 92 45 316 264 42 1 358 980
KCNQ1 118 61 205 171 38 0 309 736
HCN4 11 1 385 172 58 0 0 611
SCN10A 0 1 337 116 33 0 0 483
TRPM4 8 1 291 78 36 0 0 375
TRDN 24 12 213 65 14 0 0 326
KCNJ2 38 10 172 45 45 0 47 299
ANK2 4 4 198 63 41 0 18 294
KCNA5 6 0 152 62 21 0 0 216
CASQ2 13 9 140 32 18 0 0 197
SCN1B 4 3 122 38 38 0 0 196
CACNB2, NSUN6 1 0 121 56 19 0 0 191
LOC110121269, SCN5A 17 8 121 63 11 0 20 188
TBX5 68 14 49 9 50 0 0 185
MYO6 10 1 98 25 50 0 0 183
NKX2-5 32 4 81 30 13 0 0 156
AKAP9 1 1 103 47 20 0 0 150
KCNE1 9 2 68 38 26 1 25 134
TGFB2 24 7 67 30 8 0 0 134
GPD1L 4 0 75 37 11 0 0 122
SCN4B 3 0 78 38 4 0 0 121
CACNA2D1 0 0 64 30 24 0 0 117
KCNJ5 2 1 61 19 18 0 0 100
CACNA1C 13 8 55 4 6 0 8 87
GJA5 7 0 62 15 2 0 0 82
SNTA1 2 1 61 23 12 0 0 81
SLMAP 0 0 60 13 3 0 0 76
CAVIN1 8 1 36 14 13 0 0 72
CACNB2 1 0 38 23 7 0 1 64
MYL4 1 0 42 15 6 0 0 64
KCNE2 4 2 39 19 6 1 12 60
LOC110121288, SCN10A 0 0 42 13 4 0 0 59
TTN 0 1 24 19 15 0 0 58
LOC114827827, NPPA 2 0 32 15 2 0 0 49
SCN3B 5 1 26 13 5 0 0 47
KCNQ1, KCNQ1OT1 3 1 21 17 5 0 3 44
CALM2 9 10 15 9 2 0 0 38
SCN2B 2 0 26 9 1 0 0 38
KCNJ8 0 0 21 8 8 0 0 37
RANGRF, SLC25A35 0 0 26 6 4 0 0 36
KCNE3 1 0 28 5 2 0 0 34
CAV3 4 3 19 9 0 0 0 33
CALM3 5 1 10 10 4 0 0 30
CALM1 10 4 7 6 2 0 0 26
DSP 4 7 13 0 2 0 0 26
CASQ2, VANGL1 0 0 0 21 8 0 0 24
KCNE5 0 0 11 5 1 0 0 17
MYH6 0 1 14 2 0 1 0 17
ABCC9 3 0 8 3 1 0 1 16
PKP2 5 2 7 1 1 0 0 16
CACNA1D 2 3 4 3 3 0 0 13
GNB5 6 1 2 0 0 0 2 10
DSG2 0 1 6 0 1 0 0 8
MYBPC3 1 0 5 1 0 0 0 7
CAV3, SSUH2 1 0 3 2 0 0 0 6
JUP 0 0 3 0 3 0 0 6
KCND3 3 1 3 0 0 0 0 6
TECRL 5 0 1 0 0 0 0 6
BVES 4 0 1 0 0 0 0 5
DPP6 1 0 4 0 0 0 0 5
MHRT, MYH7 0 0 4 1 0 0 0 5
MYH7 0 2 1 2 0 0 0 5
RBM20 0 0 4 0 1 0 0 5
LAMA4 0 0 3 1 0 0 0 4
NUP155 1 0 3 0 0 0 0 4
TANGO2 4 0 0 0 0 0 0 4
DMD 0 0 2 1 0 0 0 3
FPGT-TNNI3K, TNNI3K 3 0 0 0 0 0 0 3
HRC, TRPM4 2 0 2 3 0 0 0 3
NPPA 1 0 1 1 0 0 0 3
VCL 0 0 2 1 0 0 0 3
ACTN2, MT1HL1, MTR, RYR2 0 0 2 0 0 0 0 2
AKAP9, LOC121175350 0 0 2 0 0 0 0 2
BAG3 0 0 0 0 2 0 0 2
CLIC2 1 0 1 0 0 0 0 2
FPGT-TNNI3K, LRRC53, TNNI3K 1 1 1 0 0 0 0 2
KCNE3, LIPT2 0 1 2 1 1 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508 1 1 0 0 0 0 0 2
LMNA 0 0 2 0 0 0 0 2
LOC114827851, MYH6 0 0 2 0 0 0 0 2
MT-ND4 0 0 2 0 0 0 0 2
MYLK2 0 0 1 1 0 0 0 2
MYOM1 0 0 2 0 0 0 0 2
NEBL 0 0 2 0 0 0 0 2
TCAP 0 0 1 1 0 0 0 2
TMEM43 0 0 0 0 2 0 0 2
ABCG4, ARCN1, ATP5MG, BCL9L, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HINFP, HMBS, HYOU1, IFT46, JAML, KMT2A, MPZL2, MPZL3, NLRX1, PDZD3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111465007, LOC112935929, LOC112935930, LOC120285841, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 1 0 0 0 0 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 1 0 0 0 0 0 0 1
ACTN2 0 0 1 0 0 0 0 1
ACVR2B, EXOG, LOC110121269, LOC110121286, LOC110121287, SCN5A 0 0 1 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 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
ALG10 0 0 0 0 0 1 0 1
ANKRD1 0 0 1 0 0 0 0 1
ATP1B1, NME7 0 0 1 0 0 0 0 1
ATP6V0E1, BNIP1, BOD1, C5orf58, CPEB4, CREBRF, DOCK2, DUSP1, EFCAB9, ERGIC1, FBXW11, FGF18, FOXI1, GABRP, INSYN2B, KCNIP1, KCNMB1, LCP2, LOC100128059, LOC100288254, MIR103A1, NEURL1B, NKX2-5, NPM1, PANK3, RANBP17, RARS1, RPL26L1, SH3PXD2B, SLIT3, SMIM23, SNORA74B, SPDL1, STC2, STK10, TENM2, TLX3, UBTD2, WWC1 1 0 0 0 0 0 0 1
CEP85L, PLN 0 1 0 0 0 0 0 1
CLIC6, KCNE1, KCNE2, RCAN1, RUNX1, SMIM11A 0 0 1 0 0 0 0 1
COL5A1 0 0 1 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
DSC2 0 0 0 1 0 0 0 1
DTNA 0 0 1 0 0 0 0 1
EYA4 0 0 0 1 0 0 0 1
FAM135A 0 0 0 1 0 0 0 1
FBN1 1 0 0 0 0 0 0 1
FKTN 0 0 0 1 0 0 0 1
FLNC 0 1 0 0 0 0 0 1
GAA 0 0 0 1 0 0 0 1
JPH2 0 0 1 0 0 0 0 1
KCNE1, KCNE2, SMIM11A 0 0 1 0 0 0 0 1
LDB3 0 0 0 1 0 0 0 1
LIG3 0 0 0 1 0 0 0 1
LINC01710, LINC02869, LOC120908908, LYPLAL1, LYPLAL1-DT, TGFB2, TGFB2-OT1 0 1 0 0 0 0 0 1
LOC100128979, TPM1 0 0 0 1 0 0 0 1
LOC101927055, TTN 0 0 0 1 0 0 0 1
LOC110121269, LOC110121288, SCN10A, SCN5A 1 0 0 0 0 0 0 1
MECP2 0 1 0 0 0 0 0 1
MIR4428, RYR2 0 0 1 0 0 0 0 1
MT-ATP6, MT-ATP8 1 0 0 0 0 0 0 1
MT-CYB 1 0 0 0 0 0 0 1
MT-ND5 0 0 1 0 0 0 0 1
MT-TT 0 0 1 0 0 0 0 1
NDUFB11 0 1 0 0 0 0 0 1
NOS1AP 0 0 0 1 0 0 0 1
PITX2 0 1 0 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 1
PTPN11 0 1 0 0 0 0 0 1
RAF1 0 0 1 0 0 0 0 1
SGO1 1 0 0 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 1
TGFB3 0 0 1 0 0 0 0 1
TNNI3 0 0 1 0 0 0 0 1
TNNT2 0 0 1 0 0 0 0 1
TPM1 0 0 1 0 0 0 0 1
TTR 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 250 112 4142 1724 448 0 0 6676
Illumina Clinical Services Laboratory,Illumina 3 3 1584 511 507 0 0 2433
Color Health, Inc 28 24 830 786 111 0 0 1779
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 1 0 1 0 0 1150 1152
OMIM 292 0 1 0 0 2 0 295
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 83 48 107 0 0 0 0 238
Blueprint Genetics 15 33 111 8 0 1 0 168
Mendelics 6 5 78 23 27 0 0 139
Fulgent Genetics,Fulgent Genetics 15 3 99 0 0 0 0 117
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 3 29 41 30 0 0 105
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 11 15 52 2 2 0 0 82
Integrated Genetics/Laboratory Corporation of America 13 28 2 9 19 0 0 71
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 20 21 29 0 0 70
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 50 11 3 0 0 0 0 64
Centre for Mendelian Genomics,University Medical Centre Ljubljana 9 5 48 1 0 0 0 62
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 18 42 0 0 0 1 0 61
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 3 31 24 0 0 58
Baylor Genetics 18 4 33 0 0 0 0 55
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 13 14 16 0 0 2 0 45
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 5 6 23 5 4 0 0 43
CSER _CC_NCGL, University of Washington 0 3 28 4 0 0 0 35
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 2 10 12 8 0 0 33
GeneDx 22 0 2 3 6 0 0 33
GeneReviews 33 0 0 0 0 0 0 33
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 30 30
Institute of Human Genetics, University of Leipzig Medical Center 5 5 14 3 2 0 0 29
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 28 0 0 29
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 15 5 6 0 0 26
Division of Human Genetics,Children's Hospital of Philadelphia 4 2 20 0 0 0 0 26
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 11 5 4 0 0 21
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 20 0 0 0 0 0 0 20
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 5 13 0 0 20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 7 3 2 2 0 0 17
New York Genome Center 0 0 15 0 0 0 0 15
Center for Medical Genetics Ghent,University of Ghent 2 12 0 0 0 0 0 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 6 0 0 0 0 0 14
Phosphorus, Inc. 0 0 10 1 3 0 0 14
SIB Swiss Institute of Bioinformatics 4 6 4 0 0 0 0 14
Center for Human Genetics,University of Leuven 2 4 6 1 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 8 0 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 5 0 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 2 3 0 0 0 0 8
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 3 0 0 0 0 7
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 2 2 0 1 0 0 7
Clinical Genetics laboratory, University of Goettingen 0 1 5 0 0 0 0 6
Biotechnology Research Center,Pasteur Institute of Iran 4 2 0 0 0 0 0 6
George Lab Vanderbilt University 0 5 0 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 2 0 0 0 0 5
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 2 2 0 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 0 0 4
Centre of Medical Genetics, University of Antwerp 1 2 1 0 0 0 0 4
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 3 0 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 4 0 0 0 0 4
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 2 0 0 0 0 4
Congenital Heart Disease Genetic Program Lab,American University of Beirut 3 0 0 0 0 0 0 3
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 0 3 0 0 0 0 3
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 0 3
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 1 1 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 1 1 0 0 0 0 2
Nyegaard lab; Aarhus University 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 1 1 0 0 0 0 2
Comparative, Adaptive and Functional Skeletal Biology,CCMAR - University of Algarve 2 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 1 0 0 0 0 0 0 1
Toronto General Hospital,University of Toronto 1 0 0 0 0 0 0 1
Choi Lab,Seoul National University 0 1 0 0 0 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Division of Laboratory Medicine and Clinical Genetics,Chiba University Hospital 1 0 0 0 0 0 0 1
Akbari laboratory,Tarbiat Modares University 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Pathophysiology of Heart Rhythm Disorders,Université Lyon 1 Claude Bernard 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 0 1
Swiss DNAlysis 1 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 0 1
Clinical Research Group,BGI genomics 0 1 0 0 0 0 0 1
Cardiogenomic Section,Hospital Ramos Mejia 1 0 0 0 0 0 0 1
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1 0 0 0 0 0 0 1
Robert's Program,Boston Children's Hospital 0 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 0 1

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