ClinVar Miner

List of variants in gene CPLANE1 reported as likely benign for Orofaciodigital syndrome type 6; Joubert syndrome 17

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241
NM_001384732.1(CPLANE1):c.3672+8A>G rs190206388
NM_001384732.1(CPLANE1):c.4095C>T (p.Phe1365=) rs750696838
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly) rs144391535
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=) rs377142277
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609

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