List of variants reported as uncertain significance for Usher syndrome type 2A by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 11

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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.10769C>T (p.Pro3590Leu)	rs115403785	0.00058
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	rs143275144	0.00031
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)	rs150060240	0.00010
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)	rs370155266	0.00006
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)	rs201709470	0.00002
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)	rs768461447	0.00001
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)	rs760233343	0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)	rs755612537	0.00001
NM_206933.4(USH2A):c.6805+195T>G	rs1193295201	0.00001
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)	rs776323626

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