ClinVar Miner

List of variants reported for Usher syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.15298-1176A>G rs144467375 0.00059
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339 0.00003
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NC_000011.10:g.77142712dup rs1555051390
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_001384140.1(PCDH15):c.475-2204_594+1766del
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_206933.4(USH2A):c.10183-1375_10387+1389del
NM_206933.4(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.4(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
Single allele

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.