ClinVar Miner

List of variants in gene USH1C studied for not specified

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.37-45C>G rs2240489 0.56124
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_153676.4(USH1C):c.1085+21C>G rs2240488 0.43168
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_153676.4(USH1C):c.2656-47C>T rs2072225 0.38117
NM_153676.4(USH1C):c.2547-11T>C rs10832795 0.35821
NM_153676.4(USH1C):c.522-45del rs5789990 0.31188
NM_153676.4(USH1C):c.580-27G>A rs6486378 0.30297
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_153676.4(USH1C):c.1414-34G>A rs2237964 0.16591
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_153676.4(USH1C):c.2381-46G>A rs2072233 0.10738
NM_153676.4(USH1C):c.37-47G>T rs2355022 0.09867
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_153676.4(USH1C):c.2134-12T>C rs76769358 0.04923
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942 0.02272
NM_153676.4(USH1C):c.1872G>A (p.Ser624=) rs80124409 0.01688
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser) rs34077456 0.01319
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.387+17C>T rs78718533 0.00969
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_153676.4(USH1C):c.2547-8A>G rs78509055 0.00720
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309 0.00442
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.2014-1G>A rs150567427 0.00183
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_153676.4(USH1C):c.2184+12C>T rs138547759 0.00112
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153676.4(USH1C):c.2184+10T>C rs200889109 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736 0.00074
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204 0.00021
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563 0.00019
NM_153676.4(USH1C):c.2616C>T (p.Ala872=) rs141591891 0.00019
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro) rs377002861 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.2617G>A (p.Val873Met) rs201533059 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.965G>A (p.Arg322Gln) rs140424216 0.00012
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.2538C>T (p.Asp846=) rs143860238 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153676.4(USH1C):c.1731G>A (p.Pro577=) rs199572804 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883 0.00008
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153676.4(USH1C):c.1211-1188G>A rs199972595 0.00006
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604 0.00006
NM_153676.4(USH1C):c.2013+5T>C rs371038786 0.00006
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) rs727503712 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153676.4(USH1C):c.1907G>A (p.Arg636His) rs138017852 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
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.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) rs747675437 0.00003
NM_153676.4(USH1C):c.1792C>T (p.Arg598Cys) rs111033520 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709 0.00003
NM_153676.4(USH1C):c.675-4G>A rs550964012 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153676.4(USH1C):c.1260+7C>T rs978889964 0.00002
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 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.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.760-4C>T rs374167444 0.00002
NM_153676.4(USH1C):c.1020-7G>A rs1554960567 0.00001
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser) rs765918184 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.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 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.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2568A>G (p.Val856=) rs1385487954 0.00001
NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) rs199827989 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.521+14C>G rs1235631667 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_153676.4(USH1C):c.-15G>C rs1554965975
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1413+13C>T rs876657623
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.1699C>T (p.Pro567Ser) rs549628785
NM_153676.4(USH1C):c.1767C>T (p.Ser589=) rs770217616
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) rs727503710
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) rs146191588
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp) rs1213612823
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.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met) rs876658110
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2457delinsCGCTGAC (p.Glu819delinsAspAlaAsp)
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.2579C>T (p.Pro860Leu) rs876658112
NM_153676.4(USH1C):c.264G>A (p.Val88=) rs397517879
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
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.527C>T (p.Pro176Leu) rs1461558857
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu) rs1554961433
NM_153676.4(USH1C):c.7C>A (p.Arg3=) rs876657624
NM_153676.4(USH1C):c.909G>T (p.Arg303=) rs1850478673
NM_153676.4(USH1C):c.96G>A (p.Met32Ile)

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