ClinVar Miner

List of variants reported as benign for retinal disorder by Natera, Inc.

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.1506C>T (p.Asp502=) rs10180793 0.99229
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) rs4270331 0.98177
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
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_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_205861.3(DHDDS):c.757G>A (p.Val253Met) rs3816539 0.30121
NM_000390.4(CHM):c.315-1543T>C rs12835678 0.27812
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_000390.4(CHM):c.315-1541C>A rs10217834 0.17278
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) rs17513722 0.17102
NM_000390.4(CHM):c.351A>G (p.Ala117=) rs10217950 0.17011
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16501
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) rs11125895 0.16195
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041 0.15130
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461 0.14840
NM_201548.5(CERKL):c.895+3A>G rs12623687 0.13988
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
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_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
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.5617C>G (p.Leu1873Val) rs16895517 0.09577
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_000329.3(RPE65):c.246-46G>A rs3790471 0.03558
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148 0.02573
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_000330.4(RS1):c.184+35T>C rs6633109 0.02347
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971 0.02117
NM_001122769.3(LCA5):c.197G>A (p.Arg66Gln) rs35338066 0.02087
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) rs35004053 0.01800
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu) rs114512007 0.01679
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_201548.5(CERKL):c.199G>A (p.Ala67Thr) rs61733527 0.01270
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160 0.01253
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047 0.01169
NM_001201543.2(FAM161A):c.1655T>G (p.Met552Arg) rs76112350 0.01067
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_201548.5(CERKL):c.1463A>G (p.Glu488Gly) rs35955809 0.01014
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) rs55741408 0.00895
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854 0.00773
NM_001201543.2(FAM161A):c.423-7C>T rs144455077 0.00755
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_201548.5(CERKL):c.298T>G (p.Ser100Ala) rs34753159 0.00738
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=) rs76110744 0.00702
NM_000330.4(RS1):c.523-10A>C rs142428831 0.00691
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387 0.00644
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00622
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys) rs6733774 0.00570
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_000330.4(RS1):c.258G>A (p.Pro86=) rs147290350 0.00472
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397 0.00404
NM_014249.4(NR2E3):c.1005C>A (p.Gly335=) rs142621527 0.00379
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_001142800.2(EYS):c.2259+10C>T rs78511049 0.00343
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_000330.4(RS1):c.76G>A (p.Glu26Lys) rs140983930 0.00308
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927 0.00133
NM_001122769.3(LCA5):c.1579A>G (p.Ile527Val) rs75319738 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_000390.4(CHM):c.1620A>G (p.Gln540=) rs140479582 0.00057
NM_000390.4(CHM):c.205G>C (p.Val69Leu) rs145088557 0.00056
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00046
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) rs138374611 0.00042
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=) rs112847374 0.00039
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) rs149255670 0.00035
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_014249.4(NR2E3):c.966C>T (p.Cys322=) rs148900690 0.00031
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_000330.4(RS1):c.7C>G (p.Arg3Gly) rs571944937 0.00005
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000390.4(CHM):c.447G>T (p.Met149Ile) rs746057999
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.6079-24TC[10] 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
NM_014249.4(NR2E3):c.195C>T (p.Asn65=) rs367603365
NM_014249.4(NR2E3):c.76A>C (p.Lys26Gln) rs373237215
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.494-11dup rs36008065
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201548.5(CERKL):c.239-4dup rs201864646

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