ClinVar Miner

Variants with conflicting interpretations studied for Long QT syndrome

Coded as:
Minimum review status of the submission for Long QT syndrome: Y axis collection method of the submission for Long QT syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1133 872 2 224 230 5 97 507

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Long QT syndrome pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
pathogenic 1 50 9 1 1 1 1 0 0
likely pathogenic 34 0 13 2 2 0 0 1 1
uncertain significance 35 48 1 169 78 0 0 0 0
likely benign 10 4 40 0 133 0 0 3 1
benign 1 1 8 18 0 0 0 1 1
risk factor 1 1 2 2 1 0 0 0 1

Condition to condition summary #

Total conditions: 259
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 361 0 171 153 2 56 369
not specified 0 121 0 115 110 2 7 224
Cardiovascular phenotype 0 188 0 108 91 2 16 212
Arrhythmia 0 35 0 38 28 0 3 67
Long QT syndrome 2426 59 0 10 10 1 8 27
Long QT syndrome 1 0 28 0 9 2 0 12 23
Long QT syndrome 11 0 5 0 12 7 0 1 20
Cardiac arrhythmia, ankyrin B-related 0 9 0 8 8 0 4 19
Long QT syndrome 2 0 33 0 6 4 1 8 17
Cardiomyopathy 0 13 0 10 5 1 2 16
Cardiac arrhythmia 0 6 1 7 3 0 1 12
Brugada syndrome 1 0 4 0 6 4 0 1 10
Congenital long QT syndrome 0 213 0 9 0 0 1 10
Brugada syndrome 0 132 0 1 6 0 2 9
Hypertrophic cardiomyopathy 0 30 0 2 5 0 1 8
Jervell and Lange-Nielsen syndrome 0 158 0 4 4 1 2 8
Romano-Ward syndrome 0 513 0 2 4 1 2 6
Timothy syndrome 0 16 1 0 3 0 1 5
Dilated Cardiomyopathy, Dominant 0 106 0 2 1 0 1 4
Dilated cardiomyopathy 0 2 0 2 1 0 1 4
Long QT syndrome 5 0 2 0 1 0 1 2 4
Rippling muscle disease 2; Distal myopathy, Tateyama type 0 0 0 4 0 0 0 4
short QT syndrome 0 83 0 2 2 0 1 4
Catecholaminergic polymorphic ventricular tachycardia 0 6 0 0 1 0 2 3
Distal myopathy Markesbery-Griggs type 0 0 0 2 1 0 0 3
Familial atrial fibrillation 0 92 0 1 2 0 1 3
Limb-Girdle Muscular Dystrophy, Recessive 0 0 0 2 1 0 0 3
Long QT syndrome 12 0 1 0 0 3 0 1 3
Long QT syndrome 3 0 3 0 3 0 0 0 3
Myopathy, early-onset, with fatal cardiomyopathy 0 0 0 2 1 0 0 3
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 0 2 1 0 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 3 0 0 2 0 0 2
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 0 0 1 0 1 2
Conduction disorder of the heart 0 0 0 0 1 0 1 2
History of neurodevelopmental disorder 0 1 0 0 2 0 0 2
Long QT syndrome 2/9, digenic 0 0 0 0 0 0 2 2
Paroxysmal familial ventricular fibrillation 1 0 1 0 1 1 0 0 2
Primary familial hypertrophic cardiomyopathy 0 0 0 1 1 0 0 2
Rippling muscle disease 2 0 2 0 0 0 0 2 2
Seizures 0 0 0 2 0 0 0 2
Ventricular tachycardia 0 3 0 0 2 0 0 2
11q partial monosomy syndrome 0 0 0 1 0 0 0 1
1p13.3 deletion syndrome 0 0 0 1 0 0 0 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 1 0 0 0 1
Abnormality of the eye 0 0 0 1 0 0 0 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Adams-Oliver syndrome 5 0 0 0 1 0 0 0 1
Amyloidosis 0 0 0 0 1 0 0 1
Anomalous pulmonary venous return 0 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 2 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 0 0 1
Atrial fibrillation 0 2 0 1 0 0 0 1
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 0 10 0 1 0 0 0 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 0 0 1
Atrial fibrillation; Cardiomyopathy 0 0 0 1 0 0 0 1
Atrial fibrillation; Cardiomyopathy; Heart failure; Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Autism spectrum disorder 0 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 0 1 1
Autistic behavior; Absent speech 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 0 0 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 0 1
Autistic disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 0 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 0 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 0 1 1
Bethlem myopathy 1 0 0 0 0 0 0 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 0 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
Brugada syndrome 1; Long QT syndrome 3 0 1 0 0 1 0 0 1
CHARGE association 0 0 0 0 0 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 1 0 0 0 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 0 1
Collagen VI-related myopathy 0 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 0 0 1
Cone/cone-rod dystrophy 0 0 0 1 0 0 0 1
Congenital contractural arachnodactyly 0 0 0 0 0 0 1 1
Congestive heart failure 0 0 0 0 1 0 0 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 0 1
Currarino triad 0 0 0 1 0 0 0 1
Cystinuria 0 0 0 1 0 0 0 1
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Death in infancy 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1BB 0 0 0 0 0 1 0 1
Dilated cardiomyopathy 1DD 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 2 0 0 1 0 0 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Encephalopathy 0 0 0 0 0 0 1 1
Epilepsy 0 0 0 0 0 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 1 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 0 0 0 1 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 0 1
Factor X deficiency 0 0 0 1 0 0 0 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 1 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 1 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 4 0 0 0 1 0 0 0 1
Familial hypokalemia-hypomagnesemia 0 0 0 1 0 0 0 1
Fanconi anemia 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 0 0 1
Focal seizures 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 0 0 1
Glioma 0 0 0 1 0 0 0 1
Global developmental delay 0 0 0 0 0 0 1 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 1 0 0 0 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 1 0 0 0 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 0 0 1
Glycogen storage disease, type II 0 1 0 0 1 0 0 1
Growth abnormality 0 0 0 0 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 1 0 0 0 1
Hereditary factor XI deficiency disease 0 0 0 1 0 0 0 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 0 1 1
Hereditary pancreatitis 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 0 0 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Imatinib response 0 0 0 0 0 1 0 1
Inborn genetic diseases 0 3 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Internal malformations 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 1 0 0 1 1
Jervell and Lange-Nielsen syndrome 1 0 4 0 1 0 0 0 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 0 0 1 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
KCNQ1-Related Disorders 0 1 0 0 0 0 1 1
Kallmann syndrome 1 0 0 0 0 0 0 1 1
Keratoconus 0 0 0 0 0 0 1 1
Kidney Disease; Tooth agenesis 0 0 0 0 0 0 1 1
Kleefstra syndrome 2 0 0 0 1 0 0 0 1
Leber congenital amaurosis 0 0 0 1 0 0 0 1
Left ventricular noncompaction 0 0 0 0 0 1 0 1
Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 0 1
Long QT syndrome 1, recessive 0 0 0 0 0 0 1 1
Long QT syndrome 2/3, digenic 0 0 0 0 0 0 1 1
Long QT syndrome 2/5 0 0 0 1 0 1 1 1
Long QT syndrome 3; Brugada syndrome 0 1 0 1 0 0 0 1
Long QT syndrome 4 0 0 0 0 0 0 1 1
Long QT syndrome 5, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long QT syndrome 6 0 0 0 0 1 0 0 1
Long QT syndrome 9 0 0 0 0 1 0 1 1
Long QT syndrome, drug-associated 0 0 0 1 0 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 0 1
Majeed syndrome 0 0 0 1 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 26 0 0 0 0 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mirror movements 1 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Monogenic diabetes 0 0 0 1 0 0 0 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 0 0 1 1
Myosclerosis 0 0 0 0 0 0 1 1
Myosin storage myopathy 0 0 0 0 0 0 1 1
Nemaline myopathy 6 0 0 0 1 0 0 0 1
Nephronophthisis 0 0 0 0 0 0 1 1
Neuroblastoma 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 1 0 0 1 1
Neurofibromatosis, type 2 0 0 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 0 0 1 1
Obesity; Prolonged QT interval 0 0 0 1 0 0 0 1
Parkinson disease 2 0 0 0 1 0 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 0 0 0 0 1 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Plasminogen activator inhibitor type 1 deficiency 0 0 0 0 0 0 1 1
Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormality of the cerebral white matter; Abnormality of the nares; Postnatal microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Congenital microcephaly 0 0 0 1 0 0 0 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 0 0 1 1
Primary ciliary dyskinesia 0 0 0 1 0 0 1 1
Primary dilated cardiomyopathy 0 3 0 0 1 0 0 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 0 0 1
Pulmonary arterial hypertension 0 0 0 1 0 0 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 0 1 0 0 0 1
Reduced antithrombin III activity 0 0 0 1 0 0 0 1
Reduced protein S activity 0 0 0 1 0 0 0 1
Renal transitional cell carcinoma 0 0 0 1 0 0 0 1
Retinal dystrophy 0 0 0 1 0 0 0 1
Retinitis pigmentosa 0 0 0 1 0 0 0 1
Rippling muscle disease 2, autosomal recessive 0 0 0 1 0 0 0 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 0 0 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 1 0 0 0 1
Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome 0 0 0 0 0 0 1 1
SUDDEN INFANT DEATH SYNDROME 0 5 0 0 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 0 0 1 1
Schizophrenia 0 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 0 1 0 0 0 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Short QT syndrome 1; Long QT syndrome 2 0 12 0 0 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 0 1
Spastic paraplegia 0 0 0 1 0 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 0 1
Stargardt disease 1 0 0 0 1 0 0 0 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Thrombocytopenia 0 0 0 1 0 0 0 1
Torsades de pointes 0 0 0 1 0 0 0 1
Treacher Collins syndrome 1 0 0 0 1 0 0 0 1
Usher syndrome 0 0 0 1 0 0 0 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 0 0 1 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 3 0 0 0 1 0 0 0 1
Visceral myopathy 0 0 0 1 0 0 0 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
Wolff-Parkinson-White pattern 0 5 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 507
Download table as spreadsheet
HGVS dbSNP
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC rs397508107
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000719.7(CACNA1C):c.1114-316G>A rs587782933
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=) rs750843602
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.7(CACNA1C):c.2542_2544GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=) rs1156871556
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr) rs758143691
NM_000719.7(CACNA1C):c.4727-10C>T rs749903718
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp) rs747083495
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001099404.1(SCN5A):c.4509C>T (p.Ser1503=) rs45548237
NM_001099404.1(SCN5A):c.4847_4849TCT[1] (p.Phe1617del) rs749697698
NM_001099404.1(SCN5A):c.5844C>T (p.Ile1948=) rs13324293
NM_001099404.1(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) rs371930065
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001148.4(ANK2):c.*7C>T rs35446871
NM_001148.6(ANK2):c.-39G>T rs372870729
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=) rs148462839
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg) rs199473346
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339
NM_001148.6(ANK2):c.10889-8T>A rs770001257
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.11300A>T (p.Glu3767Val) rs773893598
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly) rs140606121
NM_001148.6(ANK2):c.11673T>C (p.His3891=) rs2293324
NM_001148.6(ANK2):c.11725T>C (p.Ser3909Pro) rs141124755
NM_001148.6(ANK2):c.11790C>T (p.Ile3930=) rs45517840
NM_001148.6(ANK2):c.1245A>G (p.Glu415=) rs34145832
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132
NM_001148.6(ANK2):c.1773T>C (p.Ser591=) rs374775005
NM_001148.6(ANK2):c.1881+8C>G rs74976371
NM_001148.6(ANK2):c.1899A>G (p.Leu633=) rs377608305
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) rs150488571
NM_001148.6(ANK2):c.198C>T (p.Asn66=) rs146964054
NM_001148.6(ANK2):c.1995A>G (p.Pro665=) rs45442693
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372
NM_001148.6(ANK2):c.2127T>C (p.Asn709=) rs113454484
NM_001148.6(ANK2):c.2144C>T (p.Thr715Ile) rs199681788
NM_001148.6(ANK2):c.2277+9C>T rs141965666
NM_001148.6(ANK2):c.2278-11G>A rs146312675
NM_001148.6(ANK2):c.2337C>T (p.Val779=) rs29341
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.2583C>T (p.Tyr861=) rs529426179
NM_001148.6(ANK2):c.2592T>C (p.Pro864=) rs138641014
NM_001148.6(ANK2):c.2679A>G (p.Gly893=) rs766183219
NM_001148.6(ANK2):c.2712C>T (p.Ser904=) rs149310669
NM_001148.6(ANK2):c.2850C>A (p.Gly950=) rs189563238
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=) rs56173868
NM_001148.6(ANK2):c.3379+12T>G rs139528815
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373
NM_001148.6(ANK2):c.3579C>T (p.Arg1193=) rs3736575
NM_001148.6(ANK2):c.3893+10T>C rs72556367
NM_001148.6(ANK2):c.3893+14G>T rs2272231
NM_001148.6(ANK2):c.4123-13T>C rs759465783
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340
NM_001148.6(ANK2):c.4371+5C>T rs891690526
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207
NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg) rs200628845
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=) rs140992864
NM_001148.6(ANK2):c.5469C>T (p.Pro1823=) rs33966911
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578
NM_001148.6(ANK2):c.6168C>G (p.Leu2056=) rs3796928
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982
NM_001148.6(ANK2):c.670-10A>G rs374372032
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576
NM_001148.6(ANK2):c.7110A>G (p.Gln2370=) rs3733615
NM_001148.6(ANK2):c.7153C>T (p.Pro2385Ser) rs372362152
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930
NM_001148.6(ANK2):c.7525C>T (p.Leu2509=) rs199591964
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494
NM_001148.6(ANK2):c.7932G>A (p.Glu2644=) rs201645638
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637
NM_001148.6(ANK2):c.8286A>G (p.Leu2762=) rs751252941
NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu) rs182956726
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617
NM_001148.6(ANK2):c.8552C>T (p.Pro2851Leu) rs368569512
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=) rs374884110
NM_001148.6(ANK2):c.8814T>A (p.Ser2938=) rs759775013
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly) rs138438183
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333
NM_001148.6(ANK2):c.9279C>G (p.Thr3093=) rs148851013
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe) rs750774547
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001148.6(ANK2):c.9648A>G (p.Glu3216=) rs10013743
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu) rs149043752
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799
NM_001148.6(ANK2):c.997C>T (p.Leu333=) rs201024064
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=) rs145557320
NM_001234.5(CAV3):c.100G>A (p.Glu34Lys) rs199476325
NM_001234.5(CAV3):c.171G>A (p.Val57=) rs61147808
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001234.5(CAV3):c.244G>A (p.Val82Ile) rs112626848
NM_001234.5(CAV3):c.417C>T (p.Val139=) rs147250678
NM_001234.5(CAV3):c.6_7del (p.Met2fs) rs1060502318
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_003098.2(SNTA1):c.-255G>C rs57684257
NM_003098.2(SNTA1):c.1350C>T (p.Phe450=) rs116747979
NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) rs572545726
NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) rs75025585
NM_003098.2(SNTA1):c.497-7C>T rs116972153
NM_003098.2(SNTA1):c.555C>T (p.Val185=) rs34995247
NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) rs530603992
NM_003098.2(SNTA1):c.677G>A (p.Cys226Tyr) rs34479952
NM_003098.2(SNTA1):c.702-7C>G rs780688953
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) rs200316080
NM_003098.2(SNTA1):c.807T>C (p.Asn269=) rs73270015
NM_003098.2(SNTA1):c.828G>A (p.Lys276=) rs35938843
NM_003098.2(SNTA1):c.910C>T (p.Leu304=) rs141775350
NM_003098.2(SNTA1):c.984C>T (p.Pro328=) rs138863915
NM_003098.2(SNTA1):c.993C>T (p.Arg331=) rs143309917
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576
NM_005751.4(AKAP9):c.10221G>A (p.Glu3407=) rs200711005
NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633
NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) rs1063243
NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664
NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510
NM_005751.4(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367
NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) rs34327395
NM_005751.4(AKAP9):c.10845G>A (p.Lys3615=) rs138739292
NM_005751.4(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919
NM_005751.4(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.4(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.4(AKAP9):c.11362G>C (p.Val3788Leu) rs199527737
NM_005751.4(AKAP9):c.11519T>C (p.Ile3840Thr) rs145675748
NM_005751.4(AKAP9):c.11580T>G (p.Gly3860=) rs756398963
NM_005751.4(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750
NM_005751.4(AKAP9):c.119G>A (p.Arg40Lys) rs755408339
NM_005751.4(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334
NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) rs6964587
NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) rs35669569
NM_005751.4(AKAP9):c.158A>G (p.His53Arg) rs142125596
NM_005751.4(AKAP9):c.2230G>A (p.Glu744Lys) rs202091548
NM_005751.4(AKAP9):c.2328G>A (p.Glu776=) rs78221443
NM_005751.4(AKAP9):c.235C>T (p.Pro79Ser) rs768026366
NM_005751.4(AKAP9):c.2477T>C (p.Ile826Thr) rs534185372
NM_005751.4(AKAP9):c.2581T>C (p.Tyr861His) rs61757557
NM_005751.4(AKAP9):c.2782T>C (p.Leu928=) rs34370932
NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=) rs1989779
NM_005751.4(AKAP9):c.3430T>C (p.Cys1144Arg) rs141039834
NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=) rs13245393
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353
NM_005751.4(AKAP9):c.4164G>A (p.Ser1388=) rs146831402
NM_005751.4(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565
NM_005751.4(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505
NM_005751.4(AKAP9):c.4293G>A (p.Leu1431=) rs151197146
NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566
NM_005751.4(AKAP9):c.4814C>T (p.Thr1605Met) rs777627168
NM_005751.4(AKAP9):c.4837A>G (p.Met1613Val) rs193922723
NM_005751.4(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768
NM_005751.4(AKAP9):c.4927A>C (p.Ile1643Leu) rs141990258
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_005751.4(AKAP9):c.5117A>G (p.Asp1706Gly) rs139468199
NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935
NM_005751.4(AKAP9):c.5610T>C (p.His1870=) rs150332727
NM_005751.4(AKAP9):c.5725G>A (p.Ala1909Thr) rs200844952
NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=) rs10236397
NM_005751.4(AKAP9):c.5978-4A>G rs147494754
NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671
NM_005751.4(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383
NM_005751.4(AKAP9):c.6249C>T (p.Phe2083=) rs139770404
NM_005751.4(AKAP9):c.6945+8C>T rs733957
NM_005751.4(AKAP9):c.7208A>G (p.Glu2403Gly) rs150102469
NM_005751.4(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833
NM_005751.4(AKAP9):c.747A>G (p.Glu249=) rs78515732
NM_005751.4(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551
NM_005751.4(AKAP9):c.8020-5T>C rs375175124
NM_005751.4(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867
NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=) rs10228334
NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242
NM_005751.4(AKAP9):c.9145C>T (p.Leu3049=) rs28927678
NM_005751.4(AKAP9):c.9181C>T (p.Leu3061=) rs775991910
NM_005751.4(AKAP9):c.9214-6T>C rs377532409
NM_005751.4(AKAP9):c.9358+10A>G rs180926926
NM_005751.4(AKAP9):c.9648A>G (p.Lys3216=) rs146710448
NM_005751.4(AKAP9):c.971T>C (p.Ile324Thr) rs367857951
NM_005751.4(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693
NM_005751.4(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282
NM_014391.2(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) rs148763371
NM_033337.2(CAV3):c.-33G>T rs72546666
NM_033337.2(CAV3):c.-37G>A rs116840771
NM_033337.2(CAV3):c.123T>C (p.Phe41=) rs13087941
NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) rs28936685
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.2(CAV3):c.277G>T (p.Ala93Ser) rs28936686
NM_033337.2(CAV3):c.27C>T (p.Leu9=) rs1974763
NM_033337.2(CAV3):c.28G>A (p.Glu10Lys) rs139786391
NM_033337.2(CAV3):c.99C>T (p.Asn33=) rs1008642
NM_144573.3(NEXN):c.1671_1673GGA[2] (p.Glu561_Glu562del) rs397517848
NM_147185.3(AKAP9):c.4004_4006dup (p.Leu1336_Glu1337insGln) rs10644111
NM_170707.4(LMNA):c.1698+14G>A rs200917748
NM_172056.2(KCNH2):c.1035C>T (p.Gly345=) rs576125279
NM_172056.2(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_172056.2(KCNH2):c.1129-1G>A rs794728478
NM_172056.2(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_172056.2(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_172056.2(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_172056.2(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_172056.2(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_172056.2(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_172056.2(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_172056.2(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_172056.2(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_172056.2(KCNH2):c.1558-5C>T rs114186001
NM_172056.2(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_172056.2(KCNH2):c.1641G>A (p.Ala547=) rs149902084
NM_172056.2(KCNH2):c.167G>T (p.Arg56Leu) rs199472845
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_172056.2(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_172056.2(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_172056.2(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_172056.2(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_172056.2(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_172056.2(KCNH2):c.1750G>T (p.Gly584Cys) rs199473428
NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_172056.2(KCNH2):c.1809C>T (p.Gly603=) rs41314375
NM_172056.2(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_172056.2(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_172056.2(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_172056.2(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_172056.2(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_172056.2(KCNH2):c.1973A>G (p.Asn658Ser) rs1057523338
NM_172056.2(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_172056.2(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_172056.2(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_172056.2(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_172056.2(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_172056.2(KCNH2):c.2131A>G (p.Ile711Val) rs199473532
NM_172056.2(KCNH2):c.2145+1G>A rs886039385
NM_172056.2(KCNH2):c.2145+9A>T rs371749379
NM_172056.2(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_172056.2(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_172056.2(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_172056.2(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_172056.2(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.2382C>T (p.Val794=) rs777801910
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391
NM_172056.2(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_172056.2(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_172056.2(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172056.2(KCNH2):c.524C>A (p.Ala175Asp) rs776541110
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_172056.2(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_172056.2(KCNH2):c.77-5C>G rs72549419
NM_172056.2(KCNH2):c.817C>A (p.Arg273=) rs552583527
NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_172056.2(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172057.2(KCNH2):c.1394T>G (p.Phe465Cys) rs199472999
NM_172057.2(KCNH2):c.1433C>T (p.Ser478Leu) rs121912510
NM_172057.2(KCNH2):c.1434G>A (p.Ser478=) rs72549418
NM_172057.2(KCNH2):c.1447C>T (p.Arg483Trp) rs199473538
NM_172057.2(KCNH2):c.1489G>A (p.Asp497Asn) rs199473005
NM_172057.2(KCNH2):c.1490A>G (p.Asp497Gly) rs199473004
NM_172057.2(KCNH2):c.1516C>T (p.Pro506Ser) rs199473006
NM_172057.2(KCNH2):c.1640G>A (p.Arg547His) rs199473432
NM_172057.2(KCNH2):c.1670A>C (p.Lys557Thr) rs1805123
NM_172057.2(KCNH2):c.1672+8G>A rs200032281
NM_172057.2(KCNH2):c.1704_1708dup (p.Pro570fs) rs794728449
NM_172057.2(KCNH2):c.1718C>T (p.Ala573Val) rs77331749
NM_172057.2(KCNH2):c.1730C>T (p.Pro577Leu) rs76420733
NM_172057.2(KCNH2):c.1751G>A (p.Gly584Glu) rs199473009
NM_172057.2(KCNH2):c.1765dup (p.Glu589fs) rs794728458
NM_172057.2(KCNH2):c.1823G>A (p.Arg608His) rs199473011
NM_172057.2(KCNH2):c.1840C>T (p.Arg614Cys) rs141401803
NM_172057.2(KCNH2):c.1843C>G (p.Leu615Val) rs199473012
NM_172057.2(KCNH2):c.1928C>T (p.Thr643Ile) rs149955375
NM_172057.2(KCNH2):c.2079_2089del (p.Pro694fs) rs794728466
NM_172057.2(KCNH2):c.2088C>T (p.Gly696=) rs373414022
NM_172057.2(KCNH2):c.2113C>T (p.Leu705Phe) rs199473025
NM_172057.2(KCNH2):c.2120G>T (p.Arg707Leu) rs36210421
NM_172057.2(KCNH2):c.2132+12C>A rs72549420
NM_172057.2(KCNH2):c.2144G>A (p.Arg715Gln) rs41307270
NM_172057.2(KCNH2):c.2183A>G (p.Gln728Arg) rs151031345
NM_172057.2(KCNH2):c.2311-13GT[2] rs41313749
NM_172057.2(KCNH2):c.2416A>T (p.Thr806Ser) rs778879572
NM_172201.1(KCNE2):c.22A>G (p.Thr8Ala) rs2234916
NM_172201.1(KCNE2):c.29C>T (p.Thr10Met) rs199473648
NM_172201.1(KCNE2):c.40G>A (p.Val14Ile) rs142153692
NM_172201.1(KCNE2):c.80G>A (p.Arg27His) rs148968498
NM_174934.3(SCN4B):c.-15G>A rs777218649
NM_174934.3(SCN4B):c.174C>T (p.Cys58=) rs45539032
NM_174934.3(SCN4B):c.607G>A (p.Val203Met) rs150312046
NM_181798.1(KCNQ1):c.-16616T>C rs532941548
NM_181798.1(KCNQ1):c.1013-14C>T rs28730758
NM_181798.1(KCNQ1):c.1013-1G>T rs775537394
NM_181798.1(KCNQ1):c.1013-8C>T rs371488379
NM_181798.1(KCNQ1):c.1074C>T (p.Phe358=) rs17215465
NM_181798.1(KCNQ1):c.1132C>T (p.Gln378Ter) rs397508091
NM_181798.1(KCNQ1):c.1133+3G>A rs374767819
NM_181798.1(KCNQ1):c.1133+9C>T rs770840921
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) rs199473479
NM_181798.1(KCNQ1):c.1209+14T>C rs11024034
NM_181798.1(KCNQ1):c.1216C>T (p.Arg406Trp) rs199472793
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu) rs199473480
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) rs199472800
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1316C>A (p.Ser439Tyr) rs199472804
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.132C>T (p.Tyr44=) rs139042529
NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) rs200670744
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) rs794728537
NM_181798.1(KCNQ1):c.1400G>A (p.Arg467Gln) rs199472815
NM_181798.1(KCNQ1):c.1400G>C (p.Arg467Pro) rs199472815
NM_181798.1(KCNQ1):c.1413+11G>A rs186188610
NM_181798.1(KCNQ1):c.1418C>T (p.Thr473Met) rs34516117
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.1521C>T (p.Gly507=) rs774046442
NM_181798.1(KCNQ1):c.1546G>A (p.Gly516Ser) rs1800172
NM_181798.1(KCNQ1):c.154G>A (p.Gly52Ser) rs199473394
NM_181798.1(KCNQ1):c.1561G>A (p.Val521Ile) rs34150427
NM_181798.1(KCNQ1):c.1605C>G (p.Tyr535Ter) rs11601907
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) rs199473399
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.194G>A (p.Arg65His) rs199472698
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.339C>T (p.His113=) rs28730754
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) rs199472712
NM_181798.1(KCNQ1):c.361T>C (p.Trp121Arg) rs199473459
NM_181798.1(KCNQ1):c.376T>C (p.Ser126Pro) rs764781840
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.395G>A (p.Arg132His) rs199472720
NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) rs199472687
NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) rs199473460
NM_181798.1(KCNQ1):c.449C>G (p.Ser150Trp) rs199472730
NM_181798.1(KCNQ1):c.449C>T (p.Ser150Leu) rs199472730
NM_181798.1(KCNQ1):c.469G>A (p.Glu157Lys) rs199472734
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) rs199473451
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.524C>A (p.Ala175Glu) rs193922365
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.540+7C>T rs370506451
NM_181798.1(KCNQ1):c.54C>T (p.Ile18=) rs1800170
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.577C>T (p.Pro193Ser) rs199472753
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.591C>T (p.Val197=) rs554518844
NM_181798.1(KCNQ1):c.592G>A (p.Gly198Arg) rs199472756
NM_181798.1(KCNQ1):c.6-7C>T rs201682200
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.648_650dup (p.Ala217dup) rs794728559
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) rs397508075
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_181798.1(KCNQ1):c.729G>A (p.Ala243=) rs1805118
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767
NM_181798.1(KCNQ1):c.747+4C>T rs201590918
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) rs199472768
NM_181798.1(KCNQ1):c.77C>T (p.Thr26Met) rs143709408
NM_181798.1(KCNQ1):c.78G>A (p.Thr26=) rs148121889
NM_181798.1(KCNQ1):c.797A>T (p.Lys266Met) rs199472775
NM_181798.1(KCNQ1):c.798G>T (p.Lys266Asn) rs12720457
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.83_84CT[2] (p.Phe30fs) rs1064795333
NM_181798.1(KCNQ1):c.841C>G (p.Pro281Ala) rs28730756
NM_181798.1(KCNQ1):c.870+13C>T rs201364493
NM_181798.1(KCNQ1):c.876del (p.Lys295fs) rs1554895166
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083
NM_181798.1(KCNQ1):c.96+9C>T rs28730664
NM_181798.1(KCNQ1):c.962C>G (p.Pro321Arg) rs12720449
NM_181798.1(KCNQ1):c.97-8C>T rs150711844
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124
NM_198056.2(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2436+12G>A rs41312419
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) rs781529391
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met) rs199473603
NM_198056.2(SCN5A):c.4437+13C>T rs148598985
NM_198056.2(SCN5A):c.4594G>A (p.Val1532Ile) rs199473618
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.4848C>T (p.Phe1616=) rs41315495
NM_198056.2(SCN5A):c.4999G>A (p.Val1667Ile) rs199473293
NM_198056.2(SCN5A):c.5286C>T (p.Ile1762=) rs375323548
NM_198056.2(SCN5A):c.5360G>A (p.Ser1787Asn) rs199473316
NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) rs370114378
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) rs199473320
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.5711C>T (p.Ser1904Leu) rs150264233
NM_198056.2(SCN5A):c.5851G>T (p.Val1951Leu) rs41315493
NM_198056.2(SCN5A):c.5873G>A (p.Arg1958Gln) rs199473331
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA rs1456201116
Single allele

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