List of variants reported as likely pathogenic for Joubert syndrome 20; Meckel syndrome, type 11 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.139+47C>A	rs200063331	0.00029
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)	rs774091057	0.00002
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)	rs750897443	0.00002
NM_001077418.3(TMEM231):c.582+1G>A	rs752141701	0.00001
NM_001077416.2(TMEM231):c.470_474del
NM_001077418.3(TMEM231):c.582+2T>G
NM_001077418.3(TMEM231):c.693del (p.Ile232fs)
NM_001077418.3(TMEM231):c.753C>A (p.Tyr251Ter)
NM_001077418.3(TMEM231):c.90dup (p.Ala31fs)
NM_001077418.3(TMEM231):c.96_118dup (p.Leu40fs)

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