List of variants reported as pathogenic for Usher syndrome type 2A by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)	rs1558151555

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