ClinVar Miner

List of variants reported as pathogenic for arrhythmogenic right ventricular dysplasia 9 by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_004572.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_004572.3(PKP2):c.1848C>A (p.Tyr616Ter) rs1486464304
NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) rs751288871
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) rs794729098

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