ClinVar Miner

List of variants in gene PKP2 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) rs776915959 0.00002
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys) rs769943903
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2358-2A>G rs1956082474
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2431C>A (p.His811Asn) rs1592724489
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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.