ClinVar Miner

List of variants in gene USH1C reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
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.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 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.628A>T (p.Lys210Ter) rs755601799 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
NC_000011.9:g.(?_17522578)_(17523547_?)del
NC_000011.9:g.(?_17522588)_(17527506_?)del
NC_000011.9:g.(?_17526184)_(17548597_?)del
NC_000011.9:g.(?_17548750)_(17565854_?)del
NC_000011.9:g.(?_17552681)_(17552859_?)del
NC_000011.9:g.(?_17552691)_(17565973_?)del
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005709.4(USH1C):c.1225G>T (p.Glu409Ter) rs757625535
NM_005709.4(USH1C):c.1241_1242dup (p.Ala415fs) rs2133853125
NM_005709.4(USH1C):c.1270G>T (p.Glu424Ter) rs1244378437
NM_005709.4(USH1C):c.1277del (p.Gly426fs)
NM_005709.4(USH1C):c.1282C>T (p.Gln428Ter)
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1050del (p.Glu351fs) rs2133870386
NM_153676.4(USH1C):c.1068C>G (p.Tyr356Ter)
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
NM_153676.4(USH1C):c.1099G>T (p.Glu367Ter) rs2133868490
NM_153676.4(USH1C):c.1107dup (p.Phe370fs)
NM_153676.4(USH1C):c.1132_1133del (p.Trp378fs) rs1850384410
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.1188del (p.Val397fs)
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.183dup (p.Ile62fs)
NM_153676.4(USH1C):c.191del (p.Pro64fs) rs1850976904
NM_153676.4(USH1C):c.2210_2211dup (p.Asp738fs)
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.2227-2A>G rs2133786425
NM_153676.4(USH1C):c.2281G>T (p.Glu761Ter)
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.238_239insT (p.Arg80fs) rs2133919636
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.2407del (p.Met803fs)
NM_153676.4(USH1C):c.2491-1G>T rs1565017125
NM_153676.4(USH1C):c.24del (p.Glu8fs)
NM_153676.4(USH1C):c.263del (p.Val88fs) rs1850961650
NM_153676.4(USH1C):c.348_373del (p.His116fs) rs2133917820
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.364C>T (p.Gln122Ter) rs1850953103
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.480_481del (p.Ser161fs)
NM_153676.4(USH1C):c.491_492del (p.Val164fs) rs1850741468
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_153676.4(USH1C):c.496_496+4del
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
NM_153676.4(USH1C):c.547C>T (p.Gln183Ter)
NM_153676.4(USH1C):c.579+1G>A
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.579+1G>T
NM_153676.4(USH1C):c.579+2T>G rs2133895509
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.590del (p.Gly197fs)
NM_153676.4(USH1C):c.658del (p.Arg220fs)
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.694C>T (p.Gln232Ter)
NM_153676.4(USH1C):c.695del (p.Gln232fs)
NM_153676.4(USH1C):c.70del (p.Asp24fs)
NM_153676.4(USH1C):c.745G>T (p.Glu249Ter)
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.75T>G (p.Tyr25Ter)
NM_153676.4(USH1C):c.777del (p.Glu260fs)
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) rs876657624
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.901del (p.Arg301fs)
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs) rs761465345
NM_153676.4(USH1C):c.948_955del (p.Glu316fs) rs1312118611

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