List of variants in gene combination LOC122152296, USH2A reported as uncertain significance for autosomal recessive disease

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

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)	rs148594393	0.00272
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)	rs34447581	0.00040
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)	rs142898216	0.00015
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)	rs587783023	0.00009
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)	rs180994250	0.00009
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)	rs199571930	0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)	rs145383772	0.00005
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)	rs375656256	0.00004
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)	rs752748453	0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)	rs146916397	0.00004
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)	rs192119790	0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	rs746071929	0.00002
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.2642A>C (p.Gln881Pro)	rs769767476	0.00001
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile)	rs932726287	0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)	rs772211390	0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)	rs749621457	0.00001
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)	rs376591221	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
NM_206933.4(USH2A):c.2514A>G (p.Gln838=)	rs969374126
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)	rs2036055708
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)	rs776323626

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