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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)	rs115435816	0.01890
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)	rs16903511	0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)	rs16903514	0.00352
NM_001384732.1(CPLANE1):c.5820+7C>T	rs185534019	0.00031
NM_001384732.1(CPLANE1):c.2746+16del	rs751625561

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