List of variants studied for Joubert syndrome 17 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)	rs749447795	0.00024
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)	rs375708075	0.00007
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	rs139675596	0.00006
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	rs141507441	0.00004
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)	rs372187548	0.00002
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter)	rs1359437084	0.00001
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)	rs758903488	0.00001
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)	rs2139767280

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