ClinVar Miner

List of variants studied for Orofaciodigital syndrome type 6; Joubert syndrome 17 by Fulgent Genetics,Fulgent Genetics

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Total variants: 8
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs)
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390

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