ClinVar Miner

List of variants in gene USH2A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.12066+4409C>G rs115494070 0.00638
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) rs149570469 0.00057
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) rs111033534 0.00049
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=) rs777803742 0.00007
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=) rs151165599 0.00005
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.1449G>A (p.Thr483=) rs755603663 0.00003
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=) rs773859845 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=) rs1305453013 0.00002
NM_206933.4(USH2A):c.441A>G (p.Ser147=) rs773525654 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.10398C>T (p.Leu3466=) rs563370514
NM_206933.4(USH2A):c.1116A>T (p.Ser372=) rs754923350
NM_206933.4(USH2A):c.13713A>G (p.Glu4571=)
NM_206933.4(USH2A):c.15327T>G (p.Ser5109=)
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
NM_206933.4(USH2A):c.5376G>T (p.Gly1792=)
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=) rs773734876
NM_206933.4(USH2A):c.6597T>A (p.Leu2199=) rs1668199755
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=) rs1487136272
NM_206933.4(USH2A):c.687C>A (p.Gly229=) rs766740504
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=) rs1665138334
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=) rs2102451831

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.