List of variants reported as uncertain significance for Joubert syndrome by Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)	rs183419371	0.00013
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)	rs147416429	0.00002
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
NM_015272.5(RPGRIP1L):c.1351-11A>G	rs750076702	0.00001
NM_001375405.1(CEP120):c.1684del (p.Thr562fs)	rs2127055990
NM_001375405.1(CEP120):c.214C>T (p.Arg72Cys)	rs368379427
NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)	rs1404945116
NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)	rs2548055219
NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)	rs2547894387
NM_001384732.1(CPLANE1):c.4189+1G>A	rs2547872345
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)	rs758322225
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	rs1567800920

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