ClinVar Miner

List of variants in gene USH1C reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.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.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.2227-2A>G rs2133786425
NM_153676.4(USH1C):c.2281G>T (p.Glu761Ter)
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.24del (p.Glu8fs)
NM_153676.4(USH1C):c.348_373del (p.His116fs) rs2133917820
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.364C>T (p.Gln122Ter) rs1850953103
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_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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.