ClinVar Miner

List of variants in gene PKP2 studied for cardiac conduction defect

Included ClinVar conditions (6):

Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve
Conduction disorder of the heart
Sudden cardiac death
Sudden cardiac death; Cardiac arrest
Sudden cardiac death; Failure to thrive; Constipation; Jaundice; Generalized hypotonia; Infantile onset; Neonatal onset
Sudden cardiac death; Sinus bradycardia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)	rs149542398	0.00022
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)	rs746530389	0.00002

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