ClinVar Miner

List of variants in gene PKP2 reported as benign by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.1511-18A>G rs113698150
NM_004572.3(PKP2):c.2300-11del rs746936605
NM_004572.3(PKP2):c.2300-19T>A rs527736735
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270

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