ClinVar Miner

List of variants in gene USH1C reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00065
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg) rs1387867750 0.00002
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter) rs1278026061 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640 0.00001
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00001
NM_153676.4(USH1C):c.249-1G>A rs1850962546 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.375del (p.Ser125fs) rs756032457 0.00001
NM_153676.4(USH1C):c.387+1G>A rs1850950786 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter) rs766327614 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.759+1G>A rs968918465 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NC_000011.10:g.17526347dup rs1554961872
NM_005709.4(USH1C):c.1211-5_1232delinsCGG
NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)
NM_005709.4(USH1C):c.1284+5347_1284+5350del rs2497073190
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter) rs935876011
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter) rs776644722
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039del (p.Gln347fs) rs2497144443
NM_153676.4(USH1C):c.104+2T>C rs2497240788
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.105-1G>T rs2133920848
NM_153676.4(USH1C):c.105-2A>G rs1850985627
NM_153676.4(USH1C):c.1085+1G>C rs2133870164
NM_153676.4(USH1C):c.1086-1G>T rs2497139905
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs) rs2497139677
NM_153676.4(USH1C):c.1096del (p.Glu366fs) rs1565047971
NM_153676.4(USH1C):c.110_113del (p.Met37fs) rs2497228517
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter) rs2497139451
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1210+2T>C rs2133867701
NM_153676.4(USH1C):c.1210+2T>G
NM_153676.4(USH1C):c.1508_1509dup (p.Ala504fs)
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2185-1G>A rs746871920
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2217dup (p.Tyr740fs)
NM_153676.4(USH1C):c.2226+2T>C rs1554954858
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter) rs2497003503
NM_153676.4(USH1C):c.2280+1G>T rs2497003399
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2359del (p.Arg787fs) rs2496999266
NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2381-7_2381del rs2496984080
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs) rs2496983878
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter) rs371257969
NM_153676.4(USH1C):c.2420del (p.Gly807fs) rs748171099
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs) rs2496983474
NM_153676.4(USH1C):c.2490+1G>A rs1554953746
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2491-1G>C rs1565017125
NM_153676.4(USH1C):c.2491-2A>G
NM_153676.4(USH1C):c.2525dup (p.Glu844fs) rs754257195
NM_153676.4(USH1C):c.2535del (p.Glu844_Tyr845insTer)
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.286G>T (p.Glu96Ter) rs769420899
NM_153676.4(USH1C):c.301_311del (p.Ser101fs) rs2497223701
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs) rs2497223524
NM_153676.4(USH1C):c.356_365del (p.Lys119fs) rs2497222958
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.36+2T>A rs1851605100
NM_153676.4(USH1C):c.37-1G>C rs2497242255
NM_153676.4(USH1C):c.37-3_46del rs2133928467
NM_153676.4(USH1C):c.380_381insTTT (p.Leu128_Gln129insLeu)
NM_153676.4(USH1C):c.387+1G>C rs1850950786
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.38T>C (p.Val13Ala)
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153676.4(USH1C):c.491_492del (p.Val164fs) rs1850741468
NM_153676.4(USH1C):c.497-2A>C rs2133897518
NM_153676.4(USH1C):c.497-2A>G
NM_153676.4(USH1C):c.497_498delAC (p.Ile167fs) rs1850715505
NM_153676.4(USH1C):c.521+1G>A rs2497189770
NM_153676.4(USH1C):c.541del (p.Thr181fs) rs2497187090
NM_153676.4(USH1C):c.544T>C (p.Trp182Arg)
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter) rs2497187064
NM_153676.4(USH1C):c.560del (p.Gln187fs) rs1850697098
NM_153676.4(USH1C):c.579+1G>A rs1283092935
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.579+2T>C
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.675-1G>T rs2497171137
NM_153676.4(USH1C):c.70del (p.Asp24fs) rs2497241574
NM_153676.4(USH1C):c.711del (p.Phe237fs) rs1427085382
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.760-1G>C rs1187887456
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter) rs2497163229
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter) rs2497241282
NM_153676.4(USH1C):c.820-2A>T rs200702266
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs) rs2497241170
NM_153676.4(USH1C):c.84_85insC (p.Val29fs) rs2497241170
NM_153676.4(USH1C):c.876+2T>C rs2133878965
NM_153676.4(USH1C):c.876+2_876+19del
NM_153676.4(USH1C):c.876+2_876+3del
NM_153676.4(USH1C):c.877-2A>C rs2497156629
NM_153676.4(USH1C):c.877-2A>G rs2497156629
NM_153676.4(USH1C):c.878_882delinsA (p.Gly293fs)
NM_153676.4(USH1C):c.891_892del (p.Met298fs) rs2497156421
NM_153676.4(USH1C):c.912_934dup (p.Leu312fs)
NM_153676.4(USH1C):c.913_925del (p.Ala305fs) rs2497155760
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter) rs2497155958
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs) rs2497155607
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs) rs761465345
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs) rs2497155740
NP_005700.2(USH1C):p.Arg357Trp

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