ClinVar Miner

List of variants in gene CPLANE1 reported by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 4
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HGVS dbSNP
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.81+20= rs6876576

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