ClinVar Miner

List of variants reported as not provided for arrhythmogenic right ventricular cardiomyopathy

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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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_002230.4(JUP):c.2089A>T (p.Met697Leu)	rs1126821	0.66611
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	rs191564916	0.00060
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	rs148147581	0.00026
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	rs200420897	0.00016
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)	rs185715460	0.00008
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)	rs758904216	0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)	rs876657994	0.00002
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)	rs1234650666	0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)	rs745641212	0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu)	rs786205416	0.00001
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)	rs121918605
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)	rs1486465466
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)	rs121918603
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	rs794728754
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)	rs113994176
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)	rs113994177
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg)	rs1554219406
NM_006086.4(TUBB3):c.935C>T (p.Thr312Met)	rs777771368
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del)	rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp)	rs587777134
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	rs63750743

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