List of variants reported as not provided for Joubert syndrome

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)	rs61747071	0.04969
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00053
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	rs137880855	0.00014
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)	rs749421099	0.00007
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	rs139675596	0.00006
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys)	rs760906097	0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	rs141507441	0.00004
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_025114.4(CEP290):c.3708dup (p.Arg1237fs)	rs758991387	0.00002
NM_001329943.3(KIAA0586):c.2932_2944+4del	rs1278372009	0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A	rs367543062	0.00001
NM_001082538.3(TCTN1):c.1494+1G>A	rs1165243207
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001174150.2(ARL13B):c.836A>T (p.Lys279Ile)	rs2076889650
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)	rs1554562278
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)	rs1188561908
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)	rs367543064
NM_014704.4(CEP104):c.52G>A (p.Gly18Ser)
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148

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