List of variants reported as pathogenic for Usher syndrome type 2A by Counsyl

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	rs111033273	0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	rs754768875	0.00003
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	rs111033385	0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	rs146733615	0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)	rs200712760	0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	rs727503731
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	rs886039450
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	rs886041502
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043

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