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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