List of variants studied for Joubert syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)	rs145247651	0.00004
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	rs755459875	0.00003
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)	rs869312898	0.00001
NM_006346.4(PIBF1):c.1731-1G>A	rs2041684401	0.00001
NM_015202.5(KATNIP):c.19C>T (p.Arg7Ter)	rs774261860	0.00001
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	rs116647652	0.00001
NC_000008.10:g.(68007968_68015271)_(68062171_68066258)del
NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
NC_000016.9:g.(27561499_27585221)_(27585278_27629745)del
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)	rs1818417633
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	rs587777139
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	rs766020802
NM_001384732.1(CPLANE1):c.5594dup (p.Asn1865fs)	rs990257446
NM_014804.3(KIAA0753):c.1481del (p.Lys494fs)	rs766831438
NM_015202.5(KATNIP):c.27dup (p.Glu10fs)	rs1283389193
NM_015202.5(KATNIP):c.3584del (p.Pro1195fs)
NM_153704.6(TMEM67):c.2153_2154del (p.Arg718fs)	rs2536912345

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