List of variants reported as pathogenic for Joubert syndrome 17 by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	rs139675596	0.00006
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)	rs375009168	0.00003
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	rs367543061	0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)	rs367543063	0.00002
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His)	rs606231261	0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A	rs367543062	0.00001
NM_001384732.1(CPLANE1):c.3150-1G>T	rs606231258
NM_001384732.1(CPLANE1):c.3290-2A>G	rs606231260
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)	rs367543064
NM_002601.4(PDE6D):c.140-1G>A	rs587777156
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)	rs1559307932
NM_003611.3(OFD1):c.2767del (p.Glu923fs)	rs312262894
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)	rs312262895
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del)	rs398122866
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)	rs793888508

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