ClinVar Miner

List of variants in gene PKP2 reported as likely pathogenic by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NC_000012.12:g.32843315_32868927del
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1171-1_1556+1del
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1300del (p.Ala434fs) rs1956689333
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.2084_2085del (p.His695fs)
NM_001005242.3(PKP2):c.223G>T (p.Gly75Ter)
NM_001005242.3(PKP2):c.636delinsAA (p.His213fs) rs2137948943
NM_001005242.3(PKP2):c.954_984del (p.His318fs) rs1956945634

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.