List of variants reported as pathogenic for Usher syndrome type 2A by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	rs111033334	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_206933.4(USH2A):c.486-1G>C	rs876657730

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