List of variants studied for Usher syndrome type 2A by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)	rs121912598	0.00002
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	rs111033334	0.00001
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	rs587776894
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)	rs587776538
NM_206933.4(USH2A):c.2898del (p.Thr967fs)	rs397518008
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)	rs786205115
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)	rs111033367
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)	rs786205116

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