ClinVar Miner

List of variants in gene combination DSG2, LOC130062340 reported as likely benign 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001943.4(DSG2):c.-94G>C	rs149048465	0.00607
NM_001943.5(DSG2):c.6G>A (p.Ala2=)	rs368809971	0.00193
NM_001943.5(DSG2):c.45+16G>C	rs199519502	0.00177
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)	rs372174546	0.00054
NM_001943.5(DSG2):c.45+9C>G	rs376573409	0.00013
NM_001943.5(DSG2):c.15G>C (p.Pro5=)	rs772663614	0.00006
NM_001943.5(DSG2):c.45+17G>A	rs752853934	0.00004
NM_001943.5(DSG2):c.45+18G>T	rs762894860	0.00002
NM_001943.5(DSG2):c.31C>T (p.Leu11=)	rs1220091298	0.00001
NM_001943.5(DSG2):c.45+19A>G	rs764211843	0.00001
NM_001943.5(DSG2):c.12C>T (p.Ser4=)
NM_001943.5(DSG2):c.15G>A (p.Pro5=)
NM_001943.5(DSG2):c.18A>T (p.Gly6=)
NM_001943.5(DSG2):c.30C>A (p.Ala10=)	rs1568098547
NM_001943.5(DSG2):c.33G>C (p.Leu11=)
NM_001943.5(DSG2):c.36G>C (p.Leu12=)
NM_001943.5(DSG2):c.39T>G (p.Leu13=)
NM_001943.5(DSG2):c.42C>T (p.Leu14=)	rs1555669691
NM_001943.5(DSG2):c.45+10G>A	rs776975980
NM_001943.5(DSG2):c.45+10G>T	rs776975980
NM_001943.5(DSG2):c.45+15del
NM_001943.5(DSG2):c.45+18G>A
NM_001943.5(DSG2):c.45+6T>C	rs2072994676
NM_001943.5(DSG2):c.45+8C>T
NM_001943.5(DSG2):c.45+9C>T	rs376573409

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