ClinVar Miner

List of variants in gene PKP2 reported 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: 28
Download table as spreadsheet
HGVS dbSNP
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365
NM_004572.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_004572.3(PKP2):c.1377A>T (p.Thr459=) rs1565590176
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1436G>A (p.Cys479Tyr) rs1408803372
NM_004572.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_004572.3(PKP2):c.1526T>C (p.Leu509Ser) rs374163198
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_004572.3(PKP2):c.1745T>C (p.Leu582Pro) rs1565581687
NM_004572.3(PKP2):c.1939_1961del (p.Cys647fs) rs1555142963
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.2300-21_2300-20delGT rs200266270
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.240C>G (p.Thr80=) rs1565599860
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.963C>T (p.Val321=) rs202207343
NM_004572.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.974C>T (p.Ala325Val)

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.