ClinVar Miner

List of variants in gene USH1C reported as uncertain significance for Usher syndrome type 1

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.-71T>G rs571065113 0.00109
NM_153676.4(USH1C):c.*241C>G rs551263680 0.00091
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489 0.00029
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324 0.00024
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341 0.00021
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00019
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_153676.4(USH1C):c.*117C>G rs534567723 0.00017
NM_153676.4(USH1C):c.*427T>C rs1216254308 0.00016
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 0.00016
NM_153676.4(USH1C):c.2280+6del rs776356060 0.00016
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976 0.00014
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216 0.00012
NM_153676.4(USH1C):c.*110C>G rs75815445 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063 0.00010
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153676.4(USH1C):c.105-4A>G rs201374986 0.00008
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer) rs781176348 0.00007
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val) rs763628668 0.00007
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys) rs772123405 0.00007
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln) rs148597739 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153676.4(USH1C):c.*376A>C rs886048057 0.00006
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln) rs895318911 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00006
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881 0.00006
NM_153676.4(USH1C):c.759+10G>T rs368528034 0.00006
NM_153676.4(USH1C):c.822T>A (p.Ala274=) rs769539248 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153676.4(USH1C):c.2310C>T (p.Gly770=) rs375492038 0.00005
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg) rs199729381 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611 0.00004
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974 0.00004
NM_153676.4(USH1C):c.579+8C>T rs368634906 0.00004
NM_153676.4(USH1C):c.781G>A (p.Val261Ile) rs749119650 0.00004
NM_153676.4(USH1C):c.864T>G (p.Ile288Met) rs754717329 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys) rs117171411 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.496C>T (p.His166Tyr) rs367996370 0.00003
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser) rs1032568806 0.00003
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) rs769984840 0.00002
NM_153676.4(USH1C):c.1211-1106G>A rs201661386 0.00002
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655 0.00002
NM_153676.4(USH1C):c.204G>T (p.Leu68=) rs140945339 0.00002
NM_153676.4(USH1C):c.2253G>A (p.Lys751=) rs751998841 0.00002
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys) rs771504780 0.00002
NM_153676.4(USH1C):c.2381-10C>T rs765925104 0.00002
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539 0.00002
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153676.4(USH1C):c.388-8T>A rs777486804 0.00002
NM_153676.4(USH1C):c.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln) rs777321803 0.00002
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187 0.00002
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys) rs145245642 0.00002
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365 0.00002
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly) rs200322793 0.00002
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn) rs977658619 0.00001
NM_153676.4(USH1C):c.*140C>T rs886048058 0.00001
NM_153676.4(USH1C):c.-109A>T rs556793498 0.00001
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023 0.00001
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile) rs746789590 0.00001
NM_153676.4(USH1C):c.1101A>G (p.Glu367=) rs764975771 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812 0.00001
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp) rs868001349 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564 0.00001
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628 0.00001
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro) rs1186965957 0.00001
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.2280+15G>A rs886048059 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser) rs727505083 0.00001
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe) rs1309991987 0.00001
NM_153676.4(USH1C):c.2378A>G (p.His793Arg) rs868121889 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2490+6A>C rs1456998238 0.00001
NM_153676.4(USH1C):c.2541T>C (p.Asp847=) rs1849262183 0.00001
NM_153676.4(USH1C):c.2656-1G>A rs747133793 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys) rs747960087 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.538C>G (p.Leu180Val) rs747331051 0.00001
NM_153676.4(USH1C):c.600C>T (p.Gly200=) rs748975874 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153676.4(USH1C):c.789C>G (p.Gly263=) rs376197674 0.00001
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601 0.00001
NM_153676.4(USH1C):c.870T>A (p.Ala290=) rs765955209 0.00001
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791 0.00001
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622 0.00001
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp) rs749821587 0.00001
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln) rs763948115 0.00001
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys) rs760448018 0.00001
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile) rs1392006029 0.00001
NM_005709.4(USH1C):c.1218G>T (p.Gln406His) rs928672021
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala) rs143923730
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg) rs746527367
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_153676.4(USH1C):c.*95C>T rs552838747
NM_153676.4(USH1C):c.-60T>G rs371444878
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp) rs1850407138
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1085+7A>G rs1025205332
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1]) rs1554957867
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1806del (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1806dup (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1956_1957del (p.His652fs) rs766725582
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu) rs1850975781
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr) rs200182990
NM_153676.4(USH1C):c.2265C>G (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn) rs775036726
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn) rs1019237939
NM_153676.4(USH1C):c.2374C>A (p.Arg792=) rs200428926
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp) rs774005703
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys) rs371257969
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp) rs1849309216
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) rs767655370
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser) rs1850953775
NM_153676.4(USH1C):c.405C>G (p.Val135=) rs762298047
NM_153676.4(USH1C):c.409A>G (p.Ile137Val) rs1850747142
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp) rs1850746868
NM_153676.4(USH1C):c.501C>T (p.Ile167=) rs1382747364
NM_153676.4(USH1C):c.514G>T (p.Val172Leu) rs748703138
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly) rs1850699098
NM_153676.4(USH1C):c.567G>T (p.Val189=) rs1850696503
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp) rs200319849
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.634G>A (p.Val212Ile) rs886048060
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.776T>G (p.Val259Gly) rs772108970
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp) rs574790229
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929

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