ClinVar Miner

Variants with conflicting interpretations studied for Deafness, autosomal recessive 1A

Coded as:
Minimum review status of the submission for Deafness, autosomal recessive 1A: Y axis collection method of the submission for Deafness, autosomal recessive 1A:
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
51 49 13 47 12 1 17 68

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
Deafness, autosomal recessive 1A pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 13 25 10 4 2 1 1 1
likely pathogenic 37 0 7 3 1 0 0 0
uncertain significance 8 8 0 10 6 0 0 0
likely benign 0 0 0 0 1 0 0 0
benign 0 0 4 5 0 0 0 0

Condition to condition summary #

Total conditions: 210
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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 28 12 30 7 0 9 46
Deafness, autosomal recessive 1A 106 27 12 21 3 0 7 35
Rare genetic deafness 0 22 11 21 0 0 3 29
not specified 0 22 8 15 7 0 7 29
Hearing loss 0 7 9 10 0 0 3 20
Hearing impairment 0 5 9 11 0 0 1 17
Deafness, autosomal dominant 3a 0 16 4 6 3 0 2 13
Deafness, autosomal recessive 1A; Deafness, autosomal recessive 1b 0 6 8 3 0 0 3 10
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 0 8 5 6 0 0 1 10
Nonsyndromic Hearing Loss, Dominant 0 5 0 2 5 0 3 8
Nonsyndromic hearing loss and deafness 0 4 5 3 0 0 4 8
Hystrix-like ichthyosis with deafness 0 4 0 1 5 0 3 7
Keratitis ichthyosis and deafness syndrome 0 4 0 1 5 0 3 7
Mutilating keratoderma 0 4 0 0 4 0 3 6
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 0 0 4 2 0 0 1 4
Nonsyndromic Hearing Loss, Recessive 0 8 0 1 4 0 0 4
Inborn genetic diseases 0 0 1 2 0 0 0 3
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 0 1 1 0 0 0 1 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
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 dysplasia, familial, 13 0 0 0 0 0 0 1 1
Arthrogryphosis 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 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
Bilateral sensorineural hearing impairment 0 0 1 0 0 0 0 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
Breast-ovarian cancer, familial 3 0 0 0 1 0 0 0 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 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
Ciliary dyskinesia, primary, 7 0 0 0 1 0 0 0 1
Collagen VI-related myopathy 0 0 0 0 0 0 1 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
Congenital omphalocele; Hearing impairment; Horseshoe kidney; Short palpebral fissure 0 0 1 0 0 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
Deafness, digenic, GJB2/GJB3 0 0 1 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 0 1 1 0 0 0 0 1
Deep venous thrombosis 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 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
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild 0 0 0 0 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 16 0 0 0 0 0 0 1 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
GJB2-Related Disorders 0 0 1 0 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
Growth abnormality 0 0 0 0 0 0 1 1
Hearing impairment; Bilateral conductive hearing impairment 0 0 1 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 0 0 1 0 0 0 0 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
Hypertrophic cardiomyopathy 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
Infantile nephronophthisis 0 0 0 1 0 0 0 1
Inherited Immunodeficiency Diseases 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
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
Kallmann syndrome 1 0 0 0 0 0 0 1 1
Keratitis-ichthyosis-deafness syndrome, autosomal dominant 0 0 0 1 0 0 0 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 cardiomyopathy 0 0 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
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 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
Multiple epiphyseal dysplasia 5 0 0 0 1 0 0 0 1
Muscle dystrophy 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
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
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 0 0 1 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 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
Progressive sensorineural hearing impairment 0 1 0 0 1 0 0 1
Pulmonary arterial hypertension 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
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
Scapuloperoneal myopathy 0 0 0 0 0 0 1 1
Schizophrenia 0 0 0 1 0 0 0 1
Seizures 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
Severe sensorineural hearing impairment 0 0 1 0 0 0 0 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 0 1 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
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 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
Treacher Collins syndrome 1 0 0 0 1 0 0 0 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 0 0 1 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
Visceral myopathy 0 0 0 1 0 0 0 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 68
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HGVS dbSNP
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.630_631GT[1] (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
Single allele

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