List of variants reported as pathogenic for Usher syndrome type 2A by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	rs35818432	0.00080
NM_206933.4(USH2A):c.12067-2A>G	rs397517978	0.00001
NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)

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