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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)	rs1057517533
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)	rs397518014
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	rs727505343
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)	rs536593247

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