ClinVar Miner

List of variants reported as benign for hereditary optic atrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_130837.3(OPA1):c.*1343A>G rs1056366 0.65902
NM_130837.3(OPA1):c.*283A>G rs1061648 0.61309
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_130837.3(OPA1):c.*1113C>T rs12630 0.54101
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.*2092C>T rs1056390 0.46950
NM_130837.3(OPA1):c.*2391T>C rs11719309 0.46817
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_032273.4(TMEM126A):c.395+10A>G rs2196168 0.28103
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_130837.3(OPA1):c.*2873A>T rs10419 0.10858
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_032273.4(TMEM126A):c.-69T>A rs17148285 0.06369
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_025136.4(OPA3):c.*2469G>A rs115566341 0.01165
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_130837.3(OPA1):c.*2408A>G rs73069788 0.00927
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_130837.3(OPA1):c.*623G>A rs146468889 0.00689
NM_032273.4(TMEM126A):c.395+5G>A rs115906592 0.00680
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_130837.3(OPA1):c.*1031A>T rs114606850 0.00670
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_130837.3(OPA1):c.*220A>G rs76421015 0.00427
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.*376A>G rs142349183 0.00211
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_015560.2(OPA1):c.-172T>A rs146295726 0.00129
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_130837.3(OPA1):c.*2993C>A rs143991575 0.00094
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.*2115G>A rs144079165 0.00021
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_130837.3(OPA1):c.678+13G>C rs561115644 0.00006
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_130837.3(OPA1):c.*1610C>A rs73069785
NM_130837.3(OPA1):c.*560T>C rs7643844

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