List of variants in gene PKP2 reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	rs143004808	0.00716
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	rs139139859	0.00096
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)	rs368633311	0.00011
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	rs372827156	0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	rs121434420	0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)	rs564987195	0.00005
NM_001005242.3(PKP2):c.2357+1G>A	rs111517471	0.00004
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001005242.3(PKP2):c.1696A>G (p.Ile566Val)	rs794729110
NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter)	rs201405287
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.2108del (p.Lys703fs)	rs1565574709
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile)	rs1565574704
NM_001005242.3(PKP2):c.224-3C>G	rs786204387
NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	rs1353074803
NM_001005242.3(PKP2):c.2446-8T>G	rs794729101
NM_001005242.3(PKP2):c.68del (p.Gly23fs)	rs1555149975
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)	rs756376477

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.