List of variants reported as likely pathogenic for Joubert syndrome 1 by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)	rs1574587553
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)	rs1560002959
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs)	rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter)	rs762334514
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs)	rs767018622

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