List of variants reported as pathogenic for Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	rs121918198	0.00004
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	rs778533826	0.00002
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	rs145665129	0.00001
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	rs778149316

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