ClinVar Miner

List of variants in gene USH1C reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.2340C>T (p.Val780=) rs10832796 0.21080
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_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_153676.4(USH1C):c.2184+21T>G rs75810555 0.01371
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
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.946G>C (p.Glu316Gln) rs35336155 0.00366
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.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_153676.4(USH1C):c.2134-11T>C rs200386499 0.00047
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324 0.00024
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341 0.00021
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00019
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 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.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.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val) rs763628668 0.00007
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys) rs772123405 0.00007
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln) rs148597739 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln) rs895318911 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2373G>A (p.Glu791=) rs746011575 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00006
NM_153676.4(USH1C):c.759+10G>T rs368528034 0.00006
NM_153676.4(USH1C):c.822T>A (p.Ala274=) rs769539248 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153676.4(USH1C):c.2310C>T (p.Gly770=) rs375492038 0.00005
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg) rs199729381 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
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.579+8C>T rs368634906 0.00004
NM_153676.4(USH1C):c.781G>A (p.Val261Ile) rs749119650 0.00004
NM_153676.4(USH1C):c.864T>G (p.Ile288Met) rs754717329 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys) rs117171411 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser) rs1032568806 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) rs769984840 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys) rs771504780 0.00002
NM_153676.4(USH1C):c.2381-10C>T rs765925104 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.614G>A (p.Arg205Gln) rs777321803 0.00002
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys) rs145245642 0.00002
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365 0.00002
NM_005709.4(USH1C):c.1236C>T (p.Leu412=) rs755834769 0.00001
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn) rs977658619 0.00001
NM_153676.4(USH1C):c.1101A>G (p.Glu367=) rs764975771 0.00001
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 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.2321C>T (p.Ser774Phe) rs1309991987 0.00001
NM_153676.4(USH1C):c.2400C>T (p.Asp800=) rs139787873 0.00001
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys) rs747960087 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.538C>G (p.Leu180Val) rs747331051 0.00001
NM_153676.4(USH1C):c.600C>T (p.Gly200=) rs748975874 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153676.4(USH1C):c.870T>A (p.Ala290=) rs765955209 0.00001
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp) rs749821587 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln) rs763948115 0.00001
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys) rs760448018 0.00001
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile) rs1392006029 0.00001
NM_005709.4(USH1C):c.1218G>T (p.Gln406His) rs928672021
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg) rs746527367
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2134-22dup rs397848183
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr) rs200182990
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn) rs775036726
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn) rs1019237939
NM_153676.4(USH1C):c.2374C>A (p.Arg792=) rs200428926
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp) rs774005703
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys) rs371257969
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) rs767655370
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser) rs1850953775
NM_153676.4(USH1C):c.405C>G (p.Val135=) rs762298047
NM_153676.4(USH1C):c.409A>G (p.Ile137Val) rs1850747142
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp) rs1850746868
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.501C>T (p.Ile167=) rs1382747364
NM_153676.4(USH1C):c.514G>T (p.Val172Leu) rs748703138
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly) rs1850699098
NM_153676.4(USH1C):c.567G>T (p.Val189=) rs1850696503
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp) rs200319849
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.776T>G (p.Val259Gly) rs772108970
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp) rs574790229

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.