ClinVar Miner

List of variants in gene CPLANE1 reported as likely pathogenic by Institute of Medical Genetics,University of Zurich

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Total variants: 2
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HGVS dbSNP
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162

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