ClinVar Miner

List of variants in gene PKP2 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 6
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HGVS dbSNP
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1928A>G (p.Lys643Arg) rs533659697
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373

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