ClinVar Miner

List of variants reported as pathogenic for Orofaciodigital syndrome type 6; Joubert syndrome 17

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Total variants: 16
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs) rs1228082731
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8633-1G>C rs1561376123
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_001384732.1(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275

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