ClinVar Miner

List of variants reported as likely benign for arrhythmogenic right ventricular cardiomyopathy by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.1034+10C>T rs759397762 0.00001
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728

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