List of variants in gene combination LOC122152296, USH2A reported as uncertain significance for Usher syndrome type 2A; Retinitis pigmentosa 39

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)	rs587783023	0.00009
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)	rs146916397	0.00004
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)	rs876658114	0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)	rs1037325220	0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)	rs749621457	0.00001
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)	rs1553320519
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)	rs1553320498
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)	rs757082108

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