ClinVar Miner

List of variants in gene USH2A reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) rs111033505 0.00418
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
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.12558T>C (p.Ile4186=) rs369335995 0.00009
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_206933.4(USH2A):c.10182G>A (p.Lys3394=) rs751903445 0.00001
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met) rs1571686105
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021

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.