List of variants reported as pathogenic for COACH syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	rs121918203	0.00005
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	rs121918198	0.00004
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	rs121918204	0.00002
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.776+1G>A	rs771226563	0.00001
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	rs778149316
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	rs121918199

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