List of variants reported as likely pathogenic for Joubert syndrome by UW Hindbrain Malformation Research Program, University of Washington

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782	0.00771
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)	rs145520487	0.00087
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	rs779953982	0.00002
NM_001378615.1(CC2D2A):c.3594+5G>A	rs863225181	0.00001
NM_153704.6(TMEM67):c.2322+2dup	rs386834192	0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	rs797046045	0.00001
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	rs541666319
NM_001378615.1(CC2D2A):c.3976-3C>A	rs576298659
NM_006346.4(PIBF1):c.1669del (p.Leu557fs)	rs863225214
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)	rs773269657
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	rs863225238
NM_153704.6(TMEM67):c.2322+5del	rs863225240
NM_153704.6(TMEM67):c.2661+5G>A	rs863225239

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