ClinVar Miner

List of variants reported as pathogenic for Orofaciodigital syndrome type 6; Joubert syndrome 17 by Fulgent Genetics,Fulgent Genetics

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Total variants: 3
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596

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