List of variants reported as pathogenic for Usher syndrome type 2A; Retinitis pigmentosa 39 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.8559-2A>G	rs397518039	0.00003
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	rs375668376	0.00002
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	rs534534437	0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)	rs1171672823	0.00001
NM_206933.4(USH2A):c.5572+1G>A	rs775293551	0.00001
NM_206933.4(USH2A):c.1144-1G>A
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)	rs1293619630
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)	rs2102460193
NM_206933.4(USH2A):c.9145del (p.Val3049fs)

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