ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NM_005709.4(USH1C):c.*127C>T rs552838747
NM_005709.4(USH1C):c.*172C>T rs886048058
NM_005709.4(USH1C):c.*408A>C rs886048057
NM_005709.4(USH1C):c.-71T>G rs571065113
NM_005709.4(USH1C):c.105-4A>G rs201374986
NM_005709.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_005709.4(USH1C):c.1086-13G>T rs200490320
NM_005709.4(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005709.4(USH1C):c.1284+5376T>G rs1406224812
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_005709.4(USH1C):c.1285-2684C>T rs146451547
NM_005709.4(USH1C):c.1292G>A (p.Arg431Gln) rs371626423
NM_005709.4(USH1C):c.1365C>G (p.Leu455=) rs151251262
NM_005709.4(USH1C):c.1380+15G>A rs886048059
NM_005709.4(USH1C):c.1478A>G (p.His493Arg) rs868121889
NM_005709.4(USH1C):c.1541C>A (p.Thr514Asn) rs397517877
NM_005709.4(USH1C):c.186T>C (p.Ile62=) rs200239508
NM_005709.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_005709.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_005709.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_005709.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400
NM_005709.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611
NM_005709.4(USH1C):c.496C>T (p.His166Tyr) rs367996370
NM_005709.4(USH1C):c.497-4G>A rs397517881
NM_005709.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_005709.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_005709.4(USH1C):c.634G>A (p.Val212Ile) rs886048060
NM_005709.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_005709.4(USH1C):c.759+10G>T rs368528034
NM_005709.4(USH1C):c.789C>G (p.Gly263=) rs376197674
NM_005709.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_005709.4(USH1C):c.845G>A (p.Arg282His) rs779111365
NM_005709.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601
NM_005709.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791
NM_005709.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622
NM_005709.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.*110C>G
NM_153676.4(USH1C):c.*117C>G
NM_153676.4(USH1C):c.*241C>G
NM_153676.4(USH1C):c.*427T>C
NM_153676.4(USH1C):c.-109A>T
NM_153676.4(USH1C):c.-60T>G
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
NM_153676.4(USH1C):c.1085+7A>G
NM_153676.4(USH1C):c.1210+5G>A rs372285784
NM_153676.4(USH1C):c.1211-1106G>A
NM_153676.4(USH1C):c.1211-1175G>C
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655
NM_153676.4(USH1C):c.1351_1356AAAGAG[1] (p.451_452KE[1]) rs1554957867
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Ser473_Glu474insTer) rs781176348
NM_153676.4(USH1C):c.1543_1551CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529
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.1824del (p.Pro609fs) rs1389725640
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628
NM_153676.4(USH1C):c.1954_1955CA[1] (p.His652fs) rs766725582
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+6A>C
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2656-1G>A rs747133793
NM_153676.4(USH1C):c.2661_2663TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942
NM_153676.4(USH1C):c.388-8T>A rs777486804
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155

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