ClinVar Miner

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

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Gene type:
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Total variants: 3
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HGVS dbSNP
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.1939_1961del (p.Cys647fs) rs1555142963

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