ClinVar Miner

List of variants in gene CPLANE1 studied for Orofaciodigital syndrome type 6

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Total variants: 12
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.3150-1G>T rs606231258
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755
NM_001384732.1(CPLANE1):c.81+20= rs6876576
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429

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