List of variants studied for Usher syndrome type 2A by The Shared Resource Centre "Genome", Research Centre for Medical Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	rs111033273	0.00003
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	rs767078782	0.00001
NC_000001.11:g.(?_216108034)_(216108100_?)del
NC_000001.11:g.(?_216270461)_(216260162_?)del
NC_000001.11:g.(?_216462679)_(216462739_?)del
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)	rs398124618
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)	rs1571929573

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