List of variants reported as likely pathogenic for Joubert syndrome 16 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)	rs771224190	0.00001
NM_016464.5(TMEM138):c.128+2T>G
NM_016464.5(TMEM138):c.37_38del (p.Leu13fs)
NM_016464.5(TMEM138):c.37del (p.Leu13fs)
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	rs387907135

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