ClinVar Miner

List of variants in gene USH1C

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 614
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HGVS dbSNP
NC_000011.10:g.17544490A>C rs1859819
NC_000011.9:g.(?_17514689_17519726del
NC_000011.9:g.(?_17522578)_(17523547_?)del
NC_000011.9:g.(?_17526184)_(17548597_?)del
NC_000011.9:g.17547892_17547893insC
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_153676.4(USH1C):c.*110C>G
NM_153676.4(USH1C):c.*117C>G
NM_153676.4(USH1C):c.*131G>C
NM_153676.4(USH1C):c.*140C>T rs886048058
NM_153676.4(USH1C):c.*186C>T rs1055577
NM_153676.4(USH1C):c.*211A>G rs1055581
NM_153676.4(USH1C):c.*241C>G
NM_153676.4(USH1C):c.*376A>C rs886048057
NM_153676.4(USH1C):c.*405C>G rs11827649
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485
NM_153676.4(USH1C):c.*427T>C
NM_153676.4(USH1C):c.*42C>T rs16934270
NM_153676.4(USH1C):c.*46T>C rs1055574
NM_153676.4(USH1C):c.*95C>T rs552838747
NM_153676.4(USH1C):c.-109A>T
NM_153676.4(USH1C):c.-15G>C rs1554965975
NM_153676.4(USH1C):c.-60T>C rs371444878
NM_153676.4(USH1C):c.-60T>G
NM_153676.4(USH1C):c.-71T>G rs571065113
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.1019+52G>A rs147022226
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1020-7G>A rs1554960567
NM_153676.4(USH1C):c.102C>T (p.His34=)
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
NM_153676.4(USH1C):c.1039C>G (p.Gln347Glu)
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_153676.4(USH1C):c.104+10C>T
NM_153676.4(USH1C):c.104+1G>A rs1287021691
NM_153676.4(USH1C):c.105-16C>T rs2041027
NM_153676.4(USH1C):c.105-4A>G rs201374986
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
NM_153676.4(USH1C):c.105G>C (p.Gln35His) rs369151395
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
NM_153676.4(USH1C):c.1069C>A (p.Arg357=)
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln)
NM_153676.4(USH1C):c.1085+12G>A
NM_153676.4(USH1C):c.1085+1G>C
NM_153676.4(USH1C):c.1085+21C>G rs2240488
NM_153676.4(USH1C):c.1085+5G>C
NM_153676.4(USH1C):c.1085+7A>G
NM_153676.4(USH1C):c.1086-108A>G rs2041032
NM_153676.4(USH1C):c.1086-12G>A rs11024318
NM_153676.4(USH1C):c.1086-13G>T rs200490320
NM_153676.4(USH1C):c.1086-42G>A rs2108332
NM_153676.4(USH1C):c.1086-45A>G rs2041031
NM_153676.4(USH1C):c.1099G>T (p.Glu367Ter)
NM_153676.4(USH1C):c.1101A>G (p.Glu367=) rs764975771
NM_153676.4(USH1C):c.1116G>A (p.Lys372=)
NM_153676.4(USH1C):c.1119A>G (p.Gln373=)
NM_153676.4(USH1C):c.1132_1133del (p.Trp378fs)
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1140A>C (p.Ser380=)
NM_153676.4(USH1C):c.1143G>A (p.Lys381=)
NM_153676.4(USH1C):c.1146A>G (p.Glu382=)
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1191A>T (p.Val397=)
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690
NM_153676.4(USH1C):c.120C>T (p.Ala40=)
NM_153676.4(USH1C):c.1210+10A>C
NM_153676.4(USH1C):c.1210+5G>A rs372285784
NM_153676.4(USH1C):c.1211-1104G>A
NM_153676.4(USH1C):c.1211-1106G>A
NM_153676.4(USH1C):c.1211-1107C>T rs727504667
NM_153676.4(USH1C):c.1211-1112A>G
NM_153676.4(USH1C):c.1211-1125G>T rs1244378437
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1140G>A
NM_153676.4(USH1C):c.1211-1151C>T
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1153C>T
NM_153676.4(USH1C):c.1211-1159C>T rs755834769
NM_153676.4(USH1C):c.1211-1162G>A
NM_153676.4(USH1C):c.1211-1168A>G
NM_153676.4(USH1C):c.1211-1170G>T
NM_153676.4(USH1C):c.1211-1175G>A rs143923730
NM_153676.4(USH1C):c.1211-1175G>C
NM_153676.4(USH1C):c.1211-1175del rs1207247951
NM_153676.4(USH1C):c.1211-1177G>T
NM_153676.4(USH1C):c.1211-1187_1211-1163del
NM_153676.4(USH1C):c.1211-1188G>A rs199972595
NM_153676.4(USH1C):c.1211-1418G>A rs12271449
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
NM_153676.4(USH1C):c.1221G>C (p.Trp407Cys) rs1232470937
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) rs727503712
NM_153676.4(USH1C):c.1236T>C (p.Asp412=) rs199704356
NM_153676.4(USH1C):c.1260+7C>T rs978889964
NM_153676.4(USH1C):c.1261-34C>T rs2190454
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.126C>T (p.Leu42=)
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.127G>T (p.Val43Leu)
NM_153676.4(USH1C):c.1287G>A (p.Lys429=) rs1053537791
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655
NM_153676.4(USH1C):c.1349A>G (p.Tyr450Cys) rs1591983392
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1]) rs1554957867
NM_153676.4(USH1C):c.1353A>G (p.Lys451=) rs756818011
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.1362G>A (p.Glu454=) rs141729602
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1368G>A (p.Met456Ile) rs755916304
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204
NM_153676.4(USH1C):c.1399C>T (p.Arg467Trp) rs138996642
NM_153676.4(USH1C):c.1413+13C>T rs876657623
NM_153676.4(USH1C):c.1413+1G>A rs1591983169
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063
NM_153676.4(USH1C):c.1414-34G>A rs2237964
NM_153676.4(USH1C):c.1414G>A (p.Val472Met) rs1381465423
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Ser473_Glu474insTer) rs781176348
NM_153676.4(USH1C):c.1419T>C (p.Ser473=) rs772889885
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563
NM_153676.4(USH1C):c.1457T>C (p.Ile486Thr) rs756221230
NM_153676.4(USH1C):c.1472A>G (p.Glu491Gly) rs752030009
NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser) rs765918184
NM_153676.4(USH1C):c.148A>G (p.Ile50Val)
NM_153676.4(USH1C):c.1490G>T (p.Arg497Leu) rs776650177
NM_153676.4(USH1C):c.1495G>A (p.Glu499Lys) rs372038696
NM_153676.4(USH1C):c.1512T>C (p.Ala504=) rs886043309
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp) rs868001349
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189
NM_153676.4(USH1C):c.1531-11A>G rs397517872
NM_153676.4(USH1C):c.1531-3del rs1591979546
NM_153676.4(USH1C):c.1531-64C>A rs2237965
NM_153676.4(USH1C):c.1531A>C (p.Met511Leu) rs886044610
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1547C>T (p.Pro516Leu) rs201870537
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1548G>C (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1560T>C (p.Pro520=) rs757006603
NM_153676.4(USH1C):c.1570C>T (p.Pro524Ser) rs576189967
NM_153676.4(USH1C):c.1574T>C (p.Leu525Pro) rs727504790
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) rs727503711
NM_153676.4(USH1C):c.1592G>A (p.Arg531His) rs368244741
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489
NM_153676.4(USH1C):c.1600G>A (p.Gly534Ser) rs375568824
NM_153676.4(USH1C):c.1602C>T (p.Gly534=) rs201945610
NM_153676.4(USH1C):c.162C>T (p.Ser54=)
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736
NM_153676.4(USH1C):c.1637T>A (p.Ile546Asn) rs1591979106
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)
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.1664C>G (p.Pro555Arg) rs766124113
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604
NM_153676.4(USH1C):c.1691T>C (p.Met564Thr) rs376783946
NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser) rs549628785
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) rs747675437
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1731G>A (p.Pro577=) rs199572804
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788
NM_153676.4(USH1C):c.1767C>T (p.Ser589=) rs770217616
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr) rs369255684
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775
NM_153676.4(USH1C):c.1781C>T (p.Pro594Leu) rs758308462
NM_153676.4(USH1C):c.1792C>T (p.Arg598Cys) rs111033520
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) rs727503710
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.1820C>T (p.Pro607Leu) rs746490435
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1823C>T (p.Pro608Leu) rs41282932
NM_153676.4(USH1C):c.1824G>C (p.Pro608=) rs201101932
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe) rs560416690
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile)
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
NM_153676.4(USH1C):c.1859G>A (p.Arg620His) rs139996942
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942
NM_153676.4(USH1C):c.1868C>A (p.Pro623His) rs745392903
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1872G>A (p.Ser624=) rs80124409
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.1880A>G (p.Glu627Gly) rs199812342
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro) rs377002861
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.1899T>C (p.His633=) rs576183991
NM_153676.4(USH1C):c.18C>A (p.Ala6=) rs1592049296
NM_153676.4(USH1C):c.18C>T (p.Ala6=)
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892
NM_153676.4(USH1C):c.1907G>A (p.Arg636His) rs138017852
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser)
NM_153676.4(USH1C):c.191del (p.Pro64fs)
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628
NM_153676.4(USH1C):c.1942G>A (p.Glu648Lys) rs368729447
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp)
NM_153676.4(USH1C):c.1946C>A (p.Ala649Glu) rs758940056
NM_153676.4(USH1C):c.1956_1957del (p.His652fs) rs766725582
NM_153676.4(USH1C):c.1989A>G (p.Glu663=) rs1388399222
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
NM_153676.4(USH1C):c.2013+5T>C rs371038786
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln) rs187147906
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849
NM_153676.4(USH1C):c.2046C>T (p.Gly682=) rs1554955894
NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser) rs397517873
NM_153676.4(USH1C):c.204G>T (p.Leu68=)
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2094C>A (p.Pro698=) rs776463595
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2134-12T>C rs76769358
NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg) rs1554955501
NM_153676.4(USH1C):c.2155A>G (p.Met719Val) rs764059609
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2184+10T>C rs200889109
NM_153676.4(USH1C):c.2184+12C>T rs138547759
NM_153676.4(USH1C):c.2184+229C>T rs11024312
NM_153676.4(USH1C):c.2184+7T>C rs761925493
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494
NM_153676.4(USH1C):c.2199T>C (p.Tyr733=) rs772773409
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
NM_153676.4(USH1C):c.2226+10G>A
NM_153676.4(USH1C):c.2226+12C>T rs17703528
NM_153676.4(USH1C):c.2226+197G>A rs12270644
NM_153676.4(USH1C):c.2226+2T>C rs1554954858
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.2227-1G>T rs778110397
NM_153676.4(USH1C):c.2227-8C>T
NM_153676.4(USH1C):c.2232C>T (p.Thr744=)
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
NM_153676.4(USH1C):c.2265C>G (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
NM_153676.4(USH1C):c.2280+15G>A rs886048059
NM_153676.4(USH1C):c.2280+18dup
NM_153676.4(USH1C):c.2280+29C>T rs114971046
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2280+6del rs776356060
NM_153676.4(USH1C):c.2280+7G>A
NM_153676.4(USH1C):c.2281-113A>G rs2072234
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2281-2A>G rs921755529
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
NM_153676.4(USH1C):c.2283G>A (p.Glu761=)
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met) rs876658110
NM_153676.4(USH1C):c.2310C>T (p.Gly770=)
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser) rs727505083
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val)
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
NM_153676.4(USH1C):c.231G>T (p.Leu77=) rs923814862
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
NM_153676.4(USH1C):c.2334G>A (p.Lys778=)
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser) rs34077456
NM_153676.4(USH1C):c.234C>A (p.Thr78=)
NM_153676.4(USH1C):c.234C>G (p.Thr78=)
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2360G>C (p.Arg787Pro)
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
NM_153676.4(USH1C):c.2367T>C (p.Ala789=)
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)
NM_153676.4(USH1C):c.2373G>A (p.Glu791=) rs746011575
NM_153676.4(USH1C):c.2374C>A (p.Arg792=) rs200428926
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
NM_153676.4(USH1C):c.2375G>C (p.Arg792Pro)
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)
NM_153676.4(USH1C):c.2378A>G (p.His793Arg) rs868121889
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.2380+7G>A
NM_153676.4(USH1C):c.2381-10C>T rs765925104
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2381-46G>A rs2072233
NM_153676.4(USH1C):c.2388T>C (p.Ile796=)
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp)
NM_153676.4(USH1C):c.238del (p.Arg80fs)
NM_153676.4(USH1C):c.2391G>A (p.Val797=) rs375973884
NM_153676.4(USH1C):c.2394A>G (p.Lys798=)
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln)
NM_153676.4(USH1C):c.2400C>T (p.Asp800=) rs139787873
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
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.2418C>T (p.Asn806=) 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.2427T>C (p.Ile809=)
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2436C>T (p.Asp812=)
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
NM_153676.4(USH1C):c.243C>G (p.Arg81=)
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877
NM_153676.4(USH1C):c.2442C>G (p.Thr814=) rs749937177
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
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.248+1G>A rs1482487617
NM_153676.4(USH1C):c.248+7_248+20del rs749047869
NM_153676.4(USH1C):c.248+9G>A
NM_153676.4(USH1C):c.2485G>A (p.Gly829Ser)
NM_153676.4(USH1C):c.2486G>A (p.Gly829Asp)
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309
NM_153676.4(USH1C):c.2490+12G>C rs2072232
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.2490+6A>C
NM_153676.4(USH1C):c.2491-165C>A rs2072230
NM_153676.4(USH1C):c.2491-16C>T
NM_153676.4(USH1C):c.2491-1G>T rs1565017125
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.2520C>T (p.Cys840=)
NM_153676.4(USH1C):c.2525del (p.Pro842fs)
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2538C>T (p.Asp846=) rs143860238
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.2546+8T>G
NM_153676.4(USH1C):c.2546+9G>A
NM_153676.4(USH1C):c.2547-11T>C rs10832795
NM_153676.4(USH1C):c.2547-159_2547-158del rs10530940
NM_153676.4(USH1C):c.2547-183C>G rs1859824
NM_153676.4(USH1C):c.2547-1G>T rs571304936
NM_153676.4(USH1C):c.2547-8A>G rs78509055
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709
NM_153676.4(USH1C):c.255G>A (p.Leu85=) rs769870305
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile) rs201308481
NM_153676.4(USH1C):c.2568A>G (p.Val856=) rs1385487954
NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) rs199827989
NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu) rs876658112
NM_153676.4(USH1C):c.2585C>T (p.Pro862Leu) rs749460267
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855
NM_153676.4(USH1C):c.2609G>A (p.Arg870His) rs763367346
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2616C>T (p.Ala872=) rs141591891
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107
NM_153676.4(USH1C):c.2635C>T (p.Leu879Phe) rs368030248
NM_153676.4(USH1C):c.263del (p.Val88fs)
NM_153676.4(USH1C):c.264G>A (p.Val88=) rs397517879
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.2655G>A (p.Thr885=) rs770103013
NM_153676.4(USH1C):c.2656-106T>C rs2072226
NM_153676.4(USH1C):c.2656-1G>A rs747133793
NM_153676.4(USH1C):c.2656-20C>T
NM_153676.4(USH1C):c.2656-260A>G rs7108947
NM_153676.4(USH1C):c.2656-47C>T rs2072225
NM_153676.4(USH1C):c.2656-8C>T
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.2665C>T (p.Leu889=)
NM_153676.4(USH1C):c.2667G>A (p.Leu889=)
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.2695C>G (p.Arg899Gly) rs757572697
NM_153676.4(USH1C):c.2696G>T (p.Arg899Leu) rs148376296
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324
NM_153676.4(USH1C):c.276T>C (p.Arg92=)
NM_153676.4(USH1C):c.279G>C (p.Leu93=)
NM_153676.4(USH1C):c.291C>G (p.Gly97=)
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.297C>G (p.Gly99=)
NM_153676.4(USH1C):c.307C>A (p.Arg103Ser)
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
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.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.332G>T (p.Gly111Val)
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
NM_153676.4(USH1C):c.36+10G>T rs1419217210
NM_153676.4(USH1C):c.36+1G>A
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.36+214C>T rs7125811
NM_153676.4(USH1C):c.36+2T>A
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
NM_153676.4(USH1C):c.37-243A>G rs2883581
NM_153676.4(USH1C):c.37-45C>G rs2240489
NM_153676.4(USH1C):c.37-47G>T rs2355022
NM_153676.4(USH1C):c.37-61A>G rs878546
NM_153676.4(USH1C):c.37-9A>G
NM_153676.4(USH1C):c.375del (p.Ser125fs)
NM_153676.4(USH1C):c.378C>T (p.Val126=)
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942
NM_153676.4(USH1C):c.384C>G (p.Leu128=)
NM_153676.4(USH1C):c.387+10C>T rs779778068
NM_153676.4(USH1C):c.387+17C>T rs78718533
NM_153676.4(USH1C):c.387+1G>C
NM_153676.4(USH1C):c.387+8_387+11del
NM_153676.4(USH1C):c.388-11C>T
NM_153676.4(USH1C):c.388-17CT[5]
NM_153676.4(USH1C):c.388-8T>A rs777486804
NM_153676.4(USH1C):c.388-9G>A
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.390A>G (p.Val130=)
NM_153676.4(USH1C):c.396C>T (p.Asp132=)
NM_153676.4(USH1C):c.402C>T (p.Ile134=)
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.405C>A (p.Val135=)
NM_153676.4(USH1C):c.405C>G (p.Val135=)
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
NM_153676.4(USH1C):c.408G>T (p.Arg136=) rs200335331
NM_153676.4(USH1C):c.409A>G (p.Ile137Val)
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)
NM_153676.4(USH1C):c.424A>G (p.Ile142Val)
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153676.4(USH1C):c.453C>A (p.Ile151=)
NM_153676.4(USH1C):c.459C>T (p.Leu153=)
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611
NM_153676.4(USH1C):c.480G>A (p.Val160=)
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
NM_153676.4(USH1C):c.492G>A (p.Val164=) rs1592014365
NM_153676.4(USH1C):c.496+11C>G
NM_153676.4(USH1C):c.496+12C>G
NM_153676.4(USH1C):c.496+13A>G rs111033277
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496+21G>T rs111033278
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_153676.4(USH1C):c.496+33= rs12795083
NM_153676.4(USH1C):c.496+66G>T rs45552041
NM_153676.4(USH1C):c.496+8A>G rs1469160203
NM_153676.4(USH1C):c.496C>T (p.His166Tyr) rs367996370
NM_153676.4(USH1C):c.497-10T>C rs1565058032
NM_153676.4(USH1C):c.497-2del rs1480243085
NM_153676.4(USH1C):c.497-3C>A rs958295779
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.497-6C>T rs771186352
NM_153676.4(USH1C):c.497-9C>G
NM_153676.4(USH1C):c.49A>G (p.Ile17Val)
NM_153676.4(USH1C):c.501C>T (p.Ile167=)
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser)
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341
NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
NM_153676.4(USH1C):c.521+10C>A
NM_153676.4(USH1C):c.521+14C>G rs1235631667
NM_153676.4(USH1C):c.521+7G>A rs1205662320
NM_153676.4(USH1C):c.522-45del rs5789990
NM_153676.4(USH1C):c.522-5A>C
NM_153676.4(USH1C):c.522-9T>C
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)
NM_153676.4(USH1C):c.534G>A (p.Glu178=)
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974
NM_153676.4(USH1C):c.560del (p.Gln187fs)
NM_153676.4(USH1C):c.567G>T (p.Val189=)
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.579+8C>T
NM_153676.4(USH1C):c.580-27G>A rs6486378
NM_153676.4(USH1C):c.580-2A>T
NM_153676.4(USH1C):c.580-6T>C
NM_153676.4(USH1C):c.582C>A (p.Gly194=)
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249
NM_153676.4(USH1C):c.595C>T (p.Leu199=)
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)
NM_153676.4(USH1C):c.628A>T (p.Lys210Ter)
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_153676.4(USH1C):c.634G>A (p.Val212Ile) rs886048060
NM_153676.4(USH1C):c.636C>G (p.Val212=)
NM_153676.4(USH1C):c.639C>T (p.Phe213=)
NM_153676.4(USH1C):c.63A>C (p.Ala21=)
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_153676.4(USH1C):c.658C>G (p.Arg220Gly)
NM_153676.4(USH1C):c.659G>A (p.Arg220Gln)
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.672C>A (p.Cys224Ter) rs1223763703
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.674+4G>A rs202095395
NM_153676.4(USH1C):c.674+8G>A
NM_153676.4(USH1C):c.675-296A>G rs4756898
NM_153676.4(USH1C):c.675-4G>A rs550964012
NM_153676.4(USH1C):c.675-5C>T rs921075395
NM_153676.4(USH1C):c.675-7C>T rs1253714290
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu) rs1554961433
NM_153676.4(USH1C):c.702T>A (p.Pro234=)
NM_153676.4(USH1C):c.702T>G (p.Pro234=)
NM_153676.4(USH1C):c.720T>C (p.His240=)
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.756G>A (p.Leu252=)
NM_153676.4(USH1C):c.759+10G>A
NM_153676.4(USH1C):c.759+10G>T rs368528034
NM_153676.4(USH1C):c.759+17C>T
NM_153676.4(USH1C):c.759+20C>T
NM_153676.4(USH1C):c.759+272A>G rs79878474
NM_153676.4(USH1C):c.759+294C>T rs75165004
NM_153676.4(USH1C):c.759+9C>T rs577279187
NM_153676.4(USH1C):c.760-116G>A rs41282938
NM_153676.4(USH1C):c.760-1G>T rs1187887456
NM_153676.4(USH1C):c.760-4C>T rs374167444
NM_153676.4(USH1C):c.760-66T>C rs4757539
NM_153676.4(USH1C):c.760-7C>T
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
NM_153676.4(USH1C):c.777C>T (p.Val259=)
NM_153676.4(USH1C):c.781G>A (p.Val261Ile)
NM_153676.4(USH1C):c.786T>C (p.Asn262=)
NM_153676.4(USH1C):c.789C>G (p.Gly263=) rs376197674
NM_153676.4(USH1C):c.789C>T (p.Gly263=)
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.792C>A (p.Val264=)
NM_153676.4(USH1C):c.792C>T (p.Val264=) rs750856849
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_153676.4(USH1C):c.795C>T (p.Asp265=) rs974736193
NM_153676.4(USH1C):c.798C>T (p.Phe266=)
NM_153676.4(USH1C):c.7C>A (p.Arg3=) rs876657624
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) rs876657624
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.820-2A>T
NM_153676.4(USH1C):c.820-59C>T rs148317033
NM_153676.4(USH1C):c.820-9T>C rs370623882
NM_153676.4(USH1C):c.822T>A (p.Ala274=)
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys)
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
NM_153676.4(USH1C):c.870T>A (p.Ala290=)
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)
NM_153676.4(USH1C):c.876+2T>C
NM_153676.4(USH1C):c.877-19del
NM_153676.4(USH1C):c.877-1G>A rs771279169
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622
NM_153676.4(USH1C):c.888G>A (p.Leu296=) rs1592003565
NM_153676.4(USH1C):c.893T>C (p.Met298Thr)
NM_153676.4(USH1C):c.901C>A (p.Arg301=) rs574790229
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
NM_153676.4(USH1C):c.906G>A (p.Glu302=)
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884
NM_153676.4(USH1C):c.909G>T (p.Arg303=)
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246
NM_153676.4(USH1C):c.933G>A (p.Glu311=)
NM_153676.4(USH1C):c.942G>T (p.Arg314=)
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155
NM_153676.4(USH1C):c.948_955del (p.Glu316fs)
NM_153676.4(USH1C):c.951T>C (p.Leu317=)
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile)
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216
NM_153676.4(USH1C):c.966G>A (p.Arg322=)
NM_153676.4(USH1C):c.966G>C (p.Arg322=) rs748749433
NM_153676.4(USH1C):c.966G>T (p.Arg322=) rs748749433
NM_153676.4(USH1C):c.981C>G (p.Ser327=)
NM_153676.4(USH1C):c.984C>T (p.Asn328=)
NP_005700.2(USH1C):p.Arg357Trp
USH1C, 1-BP DEL, 1220G
USH1C, IVS5DS, G-A, +1

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