List of variants reported as likely pathogenic for Joubert syndrome 26

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)	rs138866758	0.00009
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00008
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)	rs757493420
NM_015202.5(KATNIP):c.274_275del (p.Phe92fs)
NM_015202.5(KATNIP):c.2959del (p.Asp987fs)	rs770446723
NM_015202.5(KATNIP):c.3632-1G>C
NM_015202.5(KATNIP):c.4133+1G>A	rs2144173006
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)	rs145247651

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