List of variants reported as pathogenic for SCOTT SYNDROME

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001025356.3(ANO6):c.1387-1G>T	rs374664255	0.00011
NM_001025356.3(ANO6):c.1880+1G>A	rs371269172	0.00003
NM_001025356.3(ANO6):c.747+1G>A	rs756474608	0.00002
NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)	rs549442808	0.00001
NC_000012.12:g.(?_45216094)_(45367794_45378052)del
NM_001025356.3(ANO6):c.1219dup (p.Trp407fs)	rs2547492090
NM_001025356.3(ANO6):c.1308+2T>C	rs2137575812
NM_001025356.3(ANO6):c.826C>T (p.Arg276Ter)	rs761437689

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