ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1819delT (p.Tyr607Thrfs) rs777686211
NM_023073.3(CPLANE1):c.2556dup (p.Ala853Serfs)
NM_023073.3(CPLANE1):c.3407_3408delCT (p.Ser1136Cysfs)
NM_023073.3(CPLANE1):c.3407delC (p.Ser1136Leufs)
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.493delA (p.Ile165Tyrfs) rs606231259
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter)
NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter)
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755Serfs) rs1554064102
NM_023073.3(CPLANE1):c.8263delA (p.Thr2755Hisfs)
NM_023073.3(CPLANE1):c.8471-1G>C
NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) rs1345413118
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908delAA (p.Lys303Glufs)

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