List of variants reported as likely pathogenic for Joubert syndrome 2 by Baylor Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.35-2A>G	rs1057517528	0.00002
NM_001173990.3(TMEM216):c.191del (p.Leu64fs)	rs1858737558	0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456	0.00001
NM_001173990.3(TMEM216):c.34+2T>C	rs1057517498	0.00001
NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)	rs1304320833	0.00001
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.137-2A>G	rs1858735439
NM_001173990.3(TMEM216):c.193_194delinsA (p.Leu65fs)
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.229+1G>A	rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del	rs1057520085
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)	rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)

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