ClinVar Miner

List of variants in gene LOC122152296, USH2A studied for Usher syndrome type 2A

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
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.2460T>C (p.Asn820=) rs781373128 0.00015
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
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.2628T>A (p.Gly876=) rs768522338 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.2541C>A (p.Cys847Ter) rs727503736 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 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.2643G>A (p.Gln881=) rs1286317611 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.2797C>T (p.Gln933Ter) rs1394737087 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.2317A>T (p.Lys773Ter)
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) rs2036063892
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
NM_206933.4(USH2A):c.2514A>G (p.Gln838=) rs969374126
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
NM_206933.4(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu) rs2036055708
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) rs1438734382
NM_206933.4(USH2A):c.2809+1G>A rs759433119
NM_206933.4(USH2A):c.2809+1G>C rs759433119
NM_206933.4(USH2A):c.2809+2T>A rs1553320397

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