ClinVar Miner

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

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154
NM_023073.3(CPLANE1):c.4314del (p.Glu1439fs) rs1554084360
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.5733T>G (p.Tyr1911Ter) rs770770257

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