ClinVar Miner

List of variants studied for Joubert syndrome 17 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422

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