ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Genome-Nilou Lab

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.10935+18C>T	rs2797445	0.98361
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)	rs707189	0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=)	rs2685301	0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)	rs2797441	0.95950
NM_001035.3(RYR2):c.3423+49A>G	rs2805390	0.90629
NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	rs2253273	0.84980
NM_002230.4(JUP):c.909+17T>C	rs12942034	0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=)	rs7405731	0.77675
NM_002230.4(JUP):c.2046+22A>G	rs7216034	0.77249
NM_001005242.3(PKP2):c.2013+45G>A	rs10772008	0.73962
NM_001035.3(RYR2):c.11326-23C>T	rs2253831	0.73062
NM_001035.3(RYR2):c.2718+26A>G	rs2618702	0.71570
NM_002230.4(JUP):c.1774-34C>A	rs8067890	0.71145
NM_001035.3(RYR2):c.13783-6A>G	rs790901	0.66919
NM_002230.4(JUP):c.2089A>T (p.Met697Leu)	rs1126821	0.66611
NM_001035.3(RYR2):c.13913+12A>C	rs790900	0.66578
NM_001035.3(RYR2):c.13783-21G>A	rs790902	0.64306
NM_001035.3(RYR2):c.13476+16A>G	rs2256242	0.60593
NM_001035.3(RYR2):c.677-11T>A	rs10754602	0.53281
NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	rs3765097	0.51474
NM_001035.3(RYR2):c.1612+14T>C	rs2045955	0.48321
NM_001035.3(RYR2):c.7806C>T (p.His2602=)	rs684923	0.47802
NM_001035.3(RYR2):c.6556-41G>A	rs10802626	0.39733
NM_001035.3(RYR2):c.14091-25G>A	rs9428384	0.37110
NM_001035.3(RYR2):c.11963-11T>C	rs790889	0.35417
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)	rs2340917	0.35127
NM_001035.3(RYR2):c.13476+47G>A	rs16835818	0.34821
NM_001035.3(RYR2):c.464-8A>C	rs10925391	0.33866
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)	rs4685076	0.29043
NM_024334.3(TMEM43):c.883-47C>T	rs2731320	0.16071
NM_001035.3(RYR2):c.1477-11del	rs397516518
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)	rs2797436

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