ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by Blueprint Genetics,

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Total variants: 11
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NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1045A>G (p.Met349Val) rs199957846
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.176A>T (p.Gln59Leu) rs730880179
NM_004572.3(PKP2):c.1972-5G>C rs752016948
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2083C>T (p.Arg695Cys) rs199583774
NM_004572.3(PKP2):c.2464A>G (p.Ile822Val) rs145324631
NM_004572.3(PKP2):c.926_928dup (p.Ala309dup) rs869025497
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.980G>T (p.Gly327Val) rs759660796

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