ClinVar Miner

List of variants in gene LOC122152296, USH2A studied for not provided

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Gene type:
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Total variants: 166
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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.2393A>T (p.Asp798Val) rs148431156 0.00017
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.2531G>A (p.Cys844Tyr) rs564453853 0.00007
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.2733C>T (p.Thr911=) rs375996450 0.00005
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.2509C>T (p.Arg837Trp) rs142655448 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.2309A>G (p.Lys770Arg) rs922647209 0.00001
NM_206933.4(USH2A):c.2372A>G (p.Asn791Ser) rs751837078 0.00001
NM_206933.4(USH2A):c.2409C>G (p.Leu803=) rs1341095696 0.00001
NM_206933.4(USH2A):c.2436A>G (p.Thr812=) rs749096645 0.00001
NM_206933.4(USH2A):c.2457C>A (p.Pro819=) rs919036575 0.00001
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.2561C>A (p.Thr854Lys) rs1288923263 0.00001
NM_206933.4(USH2A):c.2580G>A (p.Leu860=) rs1572088408 0.00001
NM_206933.4(USH2A):c.2586C>T (p.Asn862=) rs2036057259 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.2613A>G (p.Lys871=) rs1482412026 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.2621T>C (p.Val874Ala) rs2036055708 0.00001
NM_206933.4(USH2A):c.2626G>C (p.Gly876Arg) rs1485068491 0.00001
NM_206933.4(USH2A):c.2643G>A (p.Gln881=) rs1286317611 0.00001
NM_206933.4(USH2A):c.2658G>A (p.Arg886=) rs774441548 0.00001
NM_206933.4(USH2A):c.2665T>C (p.Leu889=) rs1310133198 0.00001
NM_206933.4(USH2A):c.2680T>G (p.Phe894Val) rs1471999535 0.00001
NM_206933.4(USH2A):c.2713T>C (p.Leu905=) rs751048819 0.00001
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile) rs932726287 0.00001
NM_206933.4(USH2A):c.2746A>G (p.Ile916Val) rs373501682 0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390 0.00001
NM_206933.4(USH2A):c.2769G>A (p.Val923=) rs556891942 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.2798A>G (p.Gln933Arg) rs988723895 0.00001
NM_206933.4(USH2A):c.2799G>A (p.Gln933=) rs757913773 0.00001
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg) rs376591221 0.00001
NM_206933.4(USH2A):c.2809+12A>G rs1249636226 0.00001
NM_206933.4(USH2A):c.2305A>G (p.Lys769Glu) rs2102546151
NM_206933.4(USH2A):c.2307A>G (p.Lys769=)
NM_206933.4(USH2A):c.2310del (p.Glu771fs)
NM_206933.4(USH2A):c.2310dup (p.Glu771fs)
NM_206933.4(USH2A):c.2316C>A (p.Ala772=)
NM_206933.4(USH2A):c.2319A>G (p.Lys773=)
NM_206933.4(USH2A):c.2320G>A (p.Gly774Arg) rs2036065652
NM_206933.4(USH2A):c.2322A>G (p.Gly774=)
NM_206933.4(USH2A):c.2334C>T (p.Asp778=)
NM_206933.4(USH2A):c.2349C>T (p.Asn783=) rs1166644045
NM_206933.4(USH2A):c.2355T>C (p.Tyr785=)
NM_206933.4(USH2A):c.2356_2357delinsAT (p.Gly786Met)
NM_206933.4(USH2A):c.2358G>A (p.Gly786=) rs750540500
NM_206933.4(USH2A):c.2367C>T (p.Val789=) rs531507711
NM_206933.4(USH2A):c.2370C>G (p.Thr790=)
NM_206933.4(USH2A):c.2372A>T (p.Asn791Ile)
NM_206933.4(USH2A):c.2375G>A (p.Cys792Tyr) rs759186102
NM_206933.4(USH2A):c.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.4(USH2A):c.2388C>T (p.Asp796=)
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) rs2036063892
NM_206933.4(USH2A):c.2392G>A (p.Asp798Asn) rs2102545950
NM_206933.4(USH2A):c.2393A>G (p.Asp798Gly) rs148431156
NM_206933.4(USH2A):c.2409C>T (p.Leu803=) rs1341095696
NM_206933.4(USH2A):c.2415G>C (p.Gly805=) rs1572088684
NM_206933.4(USH2A):c.2415G>T (p.Gly805=)
NM_206933.4(USH2A):c.2416A>G (p.Thr806Ala) rs1057519163
NM_206933.4(USH2A):c.2418T>C (p.Thr806=)
NM_206933.4(USH2A):c.2439G>C (p.Gly813=) rs2102545801
NM_206933.4(USH2A):c.2439del (p.Gln814fs)
NM_206933.4(USH2A):c.2442G>A (p.Gln814=)
NM_206933.4(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.4(USH2A):c.2449T>C (p.Cys817Arg)
NM_206933.4(USH2A):c.2451C>T (p.Cys817=)
NM_206933.4(USH2A):c.2454G>A (p.Lys818=) rs1269136992
NM_206933.4(USH2A):c.2462T>C (p.Val821Ala)
NM_206933.4(USH2A):c.2463T>C (p.Val821=)
NM_206933.4(USH2A):c.2475G>A (p.Gln825=) rs2102545698
NM_206933.4(USH2A):c.2478C>A (p.Cys826Ter) rs1380141085
NM_206933.4(USH2A):c.2481T>C (p.Asn827=)
NM_206933.4(USH2A):c.2491G>T (p.Glu831Ter)
NM_206933.4(USH2A):c.2493G>A (p.Glu831=)
NM_206933.4(USH2A):c.2498del (p.Asn833fs)
NM_206933.4(USH2A):c.2499C>T (p.Asn833=)
NM_206933.4(USH2A):c.2506C>T (p.Leu836=)
NM_206933.4(USH2A):c.2508A>G (p.Leu836=)
NM_206933.4(USH2A):c.2509C>A (p.Arg837=)
NM_206933.4(USH2A):c.2512C>A (p.Gln838Lys)
NM_206933.4(USH2A):c.2514A>G (p.Gln838=) rs969374126
NM_206933.4(USH2A):c.2525dup (p.Leu843fs) rs1403136669
NM_206933.4(USH2A):c.2531_2532del (p.Cys844fs) rs2102545572
NM_206933.4(USH2A):c.2532T>C (p.Cys844=) rs2102545568
NM_206933.4(USH2A):c.2532_2535del (p.Pro846fs)
NM_206933.4(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_206933.4(USH2A):c.2535G>A (p.Leu845=) rs2102545559
NM_206933.4(USH2A):c.2537C>T (p.Pro846Leu)
NM_206933.4(USH2A):c.2548G>C (p.Asp850His) rs2036058820
NM_206933.4(USH2A):c.2583T>C (p.Cys861=)
NM_206933.4(USH2A):c.2584A>T (p.Asn862Tyr)
NM_206933.4(USH2A):c.2585A>G (p.Asn862Ser)
NM_206933.4(USH2A):c.2588A>G (p.Lys863Arg)
NM_206933.4(USH2A):c.2589A>G (p.Lys863=)
NM_206933.4(USH2A):c.2592A>G (p.Ser864=)
NM_206933.4(USH2A):c.2599C>T (p.Gln867Ter) rs2036056925
NM_206933.4(USH2A):c.2601A>G (p.Gln867=)
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_206933.4(USH2A):c.2619G>A (p.Gly873=) rs761326678
NM_206933.4(USH2A):c.2619G>T (p.Gly873=) rs761326678
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu) rs2036055708
NM_206933.4(USH2A):c.2631T>C (p.Leu877=) rs2102545358
NM_206933.4(USH2A):c.2632C>T (p.Arg878Cys)
NM_206933.4(USH2A):c.2637T>C (p.Cys879=)
NM_206933.4(USH2A):c.2638A>T (p.Asn880Tyr)
NM_206933.4(USH2A):c.2640T>C (p.Asn880=) rs2102545327
NM_206933.4(USH2A):c.2649G>A (p.Glu883=) rs2102545304
NM_206933.4(USH2A):c.2649del (p.Glu883fs) rs2036054669
NM_206933.4(USH2A):c.2649dup (p.Pro884fs) rs2036054600
NM_206933.4(USH2A):c.2664T>C (p.Asn888=)
NM_206933.4(USH2A):c.2666T>A (p.Leu889Ter) rs1572088248
NM_206933.4(USH2A):c.2669C>T (p.Thr890Ile)
NM_206933.4(USH2A):c.2670C>A (p.Thr890=)
NM_206933.4(USH2A):c.2670del (p.Ile891fs)
NM_206933.4(USH2A):c.2672T>C (p.Ile891Thr)
NM_206933.4(USH2A):c.2682del (p.Gln895fs) rs2102545206
NM_206933.4(USH2A):c.2691C>A (p.Cys897Ter)
NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter)
NM_206933.4(USH2A):c.2695A>T (p.Met899Leu) rs755306976
NM_206933.4(USH2A):c.2703G>A (p.Glu901=)
NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs) rs755218835
NM_206933.4(USH2A):c.2714del (p.Leu905fs) rs2102545129
NM_206933.4(USH2A):c.2718G>A (p.Gly906=) rs770946113
NM_206933.4(USH2A):c.2723T>C (p.Leu908Ser)
NM_206933.4(USH2A):c.2724A>G (p.Leu908=) rs2102545107
NM_206933.4(USH2A):c.2727T>C (p.Pro909=)
NM_206933.4(USH2A):c.2730del (p.Thr911fs) rs2102545092
NM_206933.4(USH2A):c.2733del (p.Ile912fs)
NM_206933.4(USH2A):c.2738del (p.Cys913fs) rs2102545062
NM_206933.4(USH2A):c.2745A>C (p.Pro915=) rs2102545049
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626
NM_206933.4(USH2A):c.2753G>T (p.Gly918Val) rs918775246
NM_206933.4(USH2A):c.2757G>A (p.Gln919=)
NM_206933.4(USH2A):c.2760C>T (p.Cys920=) rs545884990
NM_206933.4(USH2A):c.2761C>T (p.Leu921=) rs772211390
NM_206933.4(USH2A):c.2766T>A (p.Cys922Ter)
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2777G>T (p.Arg926Leu) rs146916397
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) rs1438734382
NM_206933.4(USH2A):c.2790G>T (p.Arg930Ser)
NM_206933.4(USH2A):c.2796T>C (p.Asn932=) rs369588862
NM_206933.4(USH2A):c.2802T>A (p.Cys934Ter) rs201527662
NM_206933.4(USH2A):c.2809+10A>C rs2102544883
NM_206933.4(USH2A):c.2809+10A>G
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
NM_206933.4(USH2A):c.2809+9G>T

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