List of variants reported as pathogenic for Joubert syndrome 26

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00008
NC_000016.9:g.(27561499_27585221)_(27585278_27629745)del
NM_015202.5(KATNIP):c.19C>T (p.Arg7Ter)
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)	rs864309712
NM_015202.5(KATNIP):c.4420del (p.Met1474fs)	rs1555497891

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