List of variants reported as pathogenic for Usher syndrome type 2A by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 9

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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.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)	rs184351619	0.00005
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
GRCh37/hg19 1q41(chr1:216138660-216270555)
NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048

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