ClinVar Miner

List of variants reported as benign for cranial nerve neuropathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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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_001822.7(CHN1):c.886+15G>A rs12613075 0.35597
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_194277.3(FRMD7):c.*665A>T rs3764771 0.32838
NM_194277.3(FRMD7):c.1533T>C (p.Ile511=) rs5977623 0.32355
NM_001173464.2(KIF21A):c.*472A>G rs11171674 0.29577
NM_001173464.2(KIF21A):c.*237A>G rs11171675 0.29569
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_194277.3(FRMD7):c.*816G>A rs41312755 0.09070
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_194277.3(FRMD7):c.1101T>C (p.Asn367=) rs7051368 0.08904
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_194277.3(FRMD7):c.69C>T (p.Ser23=) rs5930546 0.08423
NM_017641.3(KIF21A):c.-313G>A rs11835359 0.06971
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_001173464.2(KIF21A):c.*418A>G rs77242017 0.06929
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu) rs5977625 0.06625
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_194277.3(FRMD7):c.1403G>A (p.Arg468His) rs6637934 0.05794
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_001173464.2(KIF21A):c.4768C>T (p.Leu1590=) rs2271477 0.05003
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp) rs75223821 0.04314
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_001173464.2(KIF21A):c.1880G>T (p.Gly627Val) rs79089655 0.03351
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_017641.3(KIF21A):c.-165G>T rs111306046 0.03008
NM_194277.3(FRMD7):c.383-11C>T rs56029310 0.02920
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_194277.3(FRMD7):c.*434C>T rs5975315 0.02249
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_001173464.2(KIF21A):c.1335G>T (p.Thr445=) rs61740919 0.01740
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_001822.7(CHN1):c.-68G>A rs117866326 0.01117
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_001822.7(CHN1):c.*677G>A rs192645480 0.00835
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg) rs149219011 0.00766
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_194277.3(FRMD7):c.1558C>G (p.His520Asp) rs61742429 0.00645
NM_001822.7(CHN1):c.*28T>C rs143852940 0.00589
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_001173464.2(KIF21A):c.1469+10A>G rs73266501 0.00562
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_001173464.2(KIF21A):c.2541A>G (p.Lys847=) rs145897823 0.00402
NM_001173464.2(KIF21A):c.*447A>G rs74088336 0.00401
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=) rs11171689 0.00359
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_017641.3(KIF21A):c.-210C>T rs113038492 0.00288
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_194277.3(FRMD7):c.1473G>T (p.Met491Ile) rs181962233 0.00249
NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser) rs142268373 0.00239
NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg) rs78616703 0.00229
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_001173464.2(KIF21A):c.903T>A (p.Leu301=) rs78806233 0.00220
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_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala) rs150294289 0.00179
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_001173464.2(KIF21A):c.*707A>G rs536139187 0.00159
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_001173464.2(KIF21A):c.1713-11C>G rs142304324 0.00142
NM_001173464.2(KIF21A):c.-19A>G rs139423015 0.00135
NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=) rs79512568 0.00135
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_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg) rs149075970 0.00092
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_001173464.2(KIF21A):c.*812T>C rs532231850 0.00090
NM_017641.3(KIF21A):c.-240G>C rs562588358 0.00089
NM_017641.3(KIF21A):c.-257C>A rs529777052 0.00088
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg) rs62000373 0.00087
NM_001173464.2(KIF21A):c.2487+5A>T rs376142046 0.00083
NM_001173464.2(KIF21A):c.*645T>G rs554887830 0.00071
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_001173464.2(KIF21A):c.1038A>G (p.Ala346=) rs148354450 0.00064
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_001173464.2(KIF21A):c.975T>C (p.Asp325=) rs143790968 0.00045
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys) rs142879430 0.00044
NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=) rs144103791 0.00042
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu) rs149718388 0.00039
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=) rs145404005 0.00036
NM_001173464.2(KIF21A):c.1776G>A (p.Ser592=) rs143782701 0.00031
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_001173464.2(KIF21A):c.2660C>T (p.Ala887Val) rs145318959 0.00027
NM_194277.3(FRMD7):c.284+10T>G rs6634867 0.00027
NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=) rs201297981 0.00022
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg) rs149328427 0.00021
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_001173464.2(KIF21A):c.1804-15C>T rs376342352 0.00016
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala) rs200645253 0.00014
NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg) rs142038295 0.00009
NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser) rs745692702 0.00006
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_001173464.2(KIF21A):c.1886G>T (p.Ser629Ile) rs765856120 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_001173464.2(KIF21A):c.2310+10A>G rs201113357 0.00003
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_001173464.2(KIF21A):c.-31C>T rs554379231 0.00001
NM_001173464.2(KIF21A):c.1104T>G (p.Ala368=) rs187327535 0.00001
NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His) rs747176706 0.00001
NM_001173464.2(KIF21A):c.3960-11C>T rs201115347 0.00001
NM_001173464.2(KIF21A):c.578G>A (p.Arg193His) rs770064077 0.00001
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_001173464.2(KIF21A):c.*690del rs34373131
NM_001173464.2(KIF21A):c.1458C>A (p.Ile486=) rs200512673
NM_017641.3(KIF21A):c.-195A>G rs532130145
NM_017641.3(KIF21A):c.-411G>A rs145372857
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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