List of variants reported as pathogenic for Joubert syndrome by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)	rs13297509	0.00001
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)	rs746415983

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