List of variants studied for Usher syndrome type 2A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.11473del (p.His3825fs)	rs774677256	0.00001
NM_206933.4(USH2A):c.14791+5G>T	rs1235430504	0.00001
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)	rs2037682180
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238

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