ClinVar Miner

List of variants in gene USH1C studied for not specified

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NM_153676.4(USH1C):c.*46T>C rs1055574
NM_153676.4(USH1C):c.-15G>C rs1554965975
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.1020-7G>A rs1554960567
NM_153676.4(USH1C):c.105-16C>T rs2041027
NM_153676.4(USH1C):c.1085+21C>G rs2240488
NM_153676.4(USH1C):c.1086-12G>A rs11024318
NM_153676.4(USH1C):c.1086-13G>T rs200490320
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1211-1107C>T rs727504667
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1188G>A rs199972595
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
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.1260+7C>T rs978889964
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204
NM_153676.4(USH1C):c.1413+13C>T rs876657623
NM_153676.4(USH1C):c.1414-34G>A rs2237964
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.1476G>T (p.Arg492Ser) rs765918184
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.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1548G>C (p.Pro516=) rs780428813
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.1597G>A (p.Ala533Thr) rs201104489
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604
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.1731G>A (p.Pro577=) rs199572804
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.1770C>T (p.Ala590=) rs17776775
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.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1824G>C (p.Pro608=) rs201101932
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile)
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
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.1889T>C (p.Leu630Pro) rs377002861
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.1944G>T (p.Glu648Asp)
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.2013+5T>C rs371038786
NM_153676.4(USH1C):c.2014-1G>A rs150567427
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.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.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.2184+10T>C rs200889109
NM_153676.4(USH1C):c.2184+12C>T rs138547759
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.2226+12C>T rs17703528
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2280+6del rs776356060
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.2311G>A (p.Gly771Ser) rs727505083
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.2377C>T (p.His793Tyr)
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.2381-46G>A rs2072233
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
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.2441C>A (p.Thr814Asn) rs397517877
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+7_248+20del rs749047869
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309
NM_153676.4(USH1C):c.2490+12G>C rs2072232
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.2538C>T (p.Asp846=) rs143860238
NM_153676.4(USH1C):c.2547-11T>C rs10832795
NM_153676.4(USH1C):c.2547-8A>G rs78509055
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709
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.2591G>A (p.Arg864Gln) rs374696855
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.264G>A (p.Val88=) rs397517879
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.2656-47C>T rs2072225
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
NM_153676.4(USH1C):c.37-45C>G rs2240489
NM_153676.4(USH1C):c.37-47G>T rs2355022
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.387+17C>T rs78718533
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
NM_153676.4(USH1C):c.496+13A>G rs111033277
NM_153676.4(USH1C):c.496+21G>T rs111033278
NM_153676.4(USH1C):c.496+33= rs12795083
NM_153676.4(USH1C):c.497-3C>A rs958295779
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.521+14C>G rs1235631667
NM_153676.4(USH1C):c.522-45del rs5789990
NM_153676.4(USH1C):c.580-27G>A rs6486378
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
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.629A>C (p.Lys210Thr) rs372789934
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.66G>A (p.Glu22=) rs768165881
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.675-4G>A rs550964012
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.760-4C>T rs374167444
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.7C>A (p.Arg3=) rs876657624
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884
NM_153676.4(USH1C):c.909G>T (p.Arg303=)
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216

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