ClinVar Miner

List of variants studied for Retinitis pigmentosa 25 by Genome-Nilou Lab

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Total variants: 63
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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.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.3568+99C>A rs62415853 0.10485
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.7723+64T>A rs72886371 0.08145
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397 0.00404
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 0.00004
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001142800.2(EYS):c.1459+103C>T rs9453265
NM_001142800.2(EYS):c.2382-26C>G rs9445437
NM_001142800.2(EYS):c.2847-24C>T rs7743515
NM_001142800.2(EYS):c.2993-2A>G rs2150022860
NM_001142800.2(EYS):c.3443+160T>G rs9345532
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro) rs545171658
NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg) rs2149832263
NM_001142800.2(EYS):c.5835+155T>C rs3904083
NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala) rs2150463938
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val) rs2150375987
NM_001142800.2(EYS):c.7196del (p.Pro2399fs) rs2149709684
NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr) rs2149678928
NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg) rs1483377268
NM_001142800.2(EYS):c.8150del (p.Lys2717fs) rs1251637752

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