ClinVar Miner

List of variants reported as likely benign for arrhythmogenic right ventricular cardiomyopathy by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.1379-18A>G rs113698150 0.00207
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.165G>T (p.Arg55=) rs1472609900 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_001005242.3(PKP2):c.2168-11dup rs746936605
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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