ClinVar Miner

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

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Gene type:
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Total variants: 11
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NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365
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.1526T>C (p.Leu509Ser) rs374163198
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.2019C>T (p.Gly673=) rs368325383
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.974C>T (p.Ala325Val)

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