List of variants reported as pathogenic for Joubert syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	rs137853108	0.00026
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_001384732.1(CPLANE1):c.7400+1G>A	rs367543062	0.00001
NM_001080522.2(CC2D2A):c.3289delG	rs386833751
NM_001082538.3(TCTN1):c.843+1del	rs797046039
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	rs797045223
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	rs764719093
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)	rs797045437
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)	rs587777145
NM_001382391.1(CSPP1):c.2829-9_2968+11del	rs1554614893
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)	rs730882217

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