ClinVar Miner

List of variants in gene USH1C studied for Autosomal recessive nonsyndromic hearing loss 18A

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2656-260A>G rs7108947 0.95611
NM_153676.4(USH1C):c.-183T>G rs1859819 0.57652
NM_153676.4(USH1C):c.1086-45A>G rs2041031 0.57266
NM_153676.4(USH1C):c.1086-42G>A rs2108332 0.57242
NM_153676.4(USH1C):c.1086-108A>G rs2041032 0.56388
NM_153676.4(USH1C):c.37-45C>G rs2240489 0.56124
NM_153676.4(USH1C):c.760-66T>C rs4757539 0.56102
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.1413+52C>T rs2190453 0.47939
NM_153676.4(USH1C):c.37-61A>G rs878546 0.45653
NM_153676.4(USH1C):c.*211A>G rs1055581 0.45185
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_153676.4(USH1C):c.*186C>T rs1055577 0.43773
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.36+214C>T rs7125811 0.39120
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.579+61G>A rs72870320 0.23593
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.2226+197G>A rs12270644 0.09831
NM_153676.4(USH1C):c.521+56A>G rs41282940 0.09720
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.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_153676.4(USH1C):c.204G>T (p.Leu68=) rs140945339 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter) rs1278026061 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.375del (p.Ser125fs) rs756032457 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter) rs1290295453 0.00001
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter) rs766327614 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.105-2A>G
NM_153676.4(USH1C):c.1086-1G>T
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1210+2T>G
NM_153676.4(USH1C):c.1261-34C>T rs2190454
NM_153676.4(USH1C):c.133G>T (p.Asp45Tyr)
NM_153676.4(USH1C):c.1508_1509dup (p.Ala504fs)
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser) rs754365594
NM_153676.4(USH1C):c.2013+1G>A
NM_153676.4(USH1C):c.2185-1G>A
NM_153676.4(USH1C):c.2226+2T>G
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.2381-7_2381del
NM_153676.4(USH1C):c.238del (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter) rs371257969
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
NM_153676.4(USH1C):c.249-1G>A
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2491-1G>T rs1565017125
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
NM_153676.4(USH1C):c.2546+125A>G rs2072229
NM_153676.4(USH1C):c.2546+1G>A
NM_153676.4(USH1C):c.286G>T (p.Glu96Ter)
NM_153676.4(USH1C):c.348_373del (p.His116fs) rs2133917820
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.37-1G>C
NM_153676.4(USH1C):c.37-1G>T
NM_153676.4(USH1C):c.378_379insT (p.Gly127fs)
NM_153676.4(USH1C):c.380_381insTTT (p.Leu128_Gln129insLeu)
NM_153676.4(USH1C):c.387+1G>A
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.38T>C (p.Val13Ala)
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496+33= rs12795083
NM_153676.4(USH1C):c.497-2A>G
NM_153676.4(USH1C):c.497_498delAC (p.Ile167fs)
NM_153676.4(USH1C):c.541del (p.Thr181fs)
NM_153676.4(USH1C):c.544T>C (p.Trp182Arg)
NM_153676.4(USH1C):c.579+1G>A
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.579+2T>C
NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr)
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.70del (p.Asp24fs)
NM_153676.4(USH1C):c.711del (p.Phe237fs)
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
NM_153676.4(USH1C):c.876T>C (p.Ala292=)
NM_153676.4(USH1C):c.877-2A>G
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)

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