List of variants reported as pathogenic for Joubert syndrome and related disorders by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	rs118204051
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)	rs1554562278
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)	rs1292516576

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