ClinVar Miner

List of variants reported as benign for Retinitis pigmentosa 25

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1599+96A>C rs1502963 0.99413
NM_001142800.2(EYS):c.1600-38G>A rs1502965 0.98305
NM_001142800.2(EYS):c.1600-79A>G rs1502964 0.98305
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.5928-35T>C rs587278 0.72606
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_001142800.2(EYS):c.2641+198A>C rs10046141 0.67344
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_001142800.2(EYS):c.1767-136T>G rs9342465 0.49843
NM_001142800.2(EYS):c.2260-76G>A rs9453115 0.39093
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001142800.2(EYS):c.6834+61T>G rs66502009 0.29500
NM_001142800.2(EYS):c.6078+68A>G rs36133910 0.27370
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001142800.2(EYS):c.-500A>G rs1490127 0.20918
NM_001142800.2(EYS):c.3444-5C>T rs9445051 0.19475
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16501
NM_001142800.2(EYS):c.2847-157A>G rs58449017 0.14846
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916 0.10887
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10143
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.09859
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.09847
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001142800.2(EYS):c.862+87T>C rs4710522 0.09325
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00622
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397 0.00404
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927 0.00133
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.1459+103C>T rs9453265
NM_001142800.2(EYS):c.2023+14_2023+15dup rs35045551
NM_001142800.2(EYS):c.2382-26C>G rs9445437
NM_001142800.2(EYS):c.2847-24C>T rs7743515
NM_001142800.2(EYS):c.3443+160T>G rs9345532
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.5835+155T>C rs3904083
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6079-24TC[9] rs35395170
NM_001142800.2(EYS):c.863-22_863-21insTTC rs1554192996
NM_001142800.2(EYS):c.863-30_863-28dup rs34154043
NM_001142800.2(EYS):c.863-30_863-29dup rs34154043
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112

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.