List of variants reported as pathogenic for Usher syndrome type 2A by Genomics England Pilot Project, Genomics England

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)	rs199679165	0.00002
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)	rs746447649
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)	rs2102664776
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)	rs2102788946

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