ClinVar Miner

List of variants in gene USH2A studied for Usher syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_216011333)_(216040512_?)del
NM_007123.5(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_007123.5(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.3(USH2A):c.10183-1375_10387+1389del
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15298-1176A>G rs144467375
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.651+1G>A rs1553257761
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389
NM_206933.3(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.9433C>T (p.Leu3145Phe)
NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599

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.