ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (37):

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy; Amyloidosis
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome
Arrhythmogenic right ventricular dysplasia 1
Arrhythmogenic right ventricular dysplasia 10
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB
Arrhythmogenic right ventricular dysplasia 11
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 13
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome
Arrhythmogenic right ventricular dysplasia 2
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 9
Arrhythmogenic right ventricular dysplasia, familial, 14
Arrhythmogenic right ventricular dysplasia, familial, 14; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Familial isolated arrhythmogenic right ventricular dysplasia
Naxos disease
Naxos disease; Arrhythmogenic right ventricular dysplasia 12
Naxos disease; non-syndromic arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)	rs920721092	0.00002
NM_000335.5(SCN5A):c.2383G>C (p.Glu795Gln)
NM_001792.5(CDH2):c.1133A>G (p.Asn378Ser)
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)

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