List of variants in gene combination LOC122152296, USH2A reported as pathogenic for Usher syndrome type 2A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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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.2541C>A (p.Cys847Ter)	rs727503736	0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	rs767078782	0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)	rs1394737087	0.00001
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)	rs2036063892
NM_206933.4(USH2A):c.2534del (p.Leu845fs)	rs1572088481
NM_206933.4(USH2A):c.2809+1G>A	rs759433119

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