ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192

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