ClinVar Miner

List of variants in gene PKP2 reported as likely benign by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_004572.3(PKP2):c.1034+10C>T rs759397762
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2253G>A (p.Ser751=) rs139098675
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382

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