ClinVar Miner

List of variants studied for Cataract 18 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_024513.4(FYCO1):c.*455A>G rs6441934 0.86048
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) rs4683158 0.84476
NM_024513.4(FYCO1):c.*3742T>A rs7130 0.83012
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) rs1463680 0.78251
NM_024513.4(FYCO1):c.*505A>G rs7652331 0.73831
NM_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801 0.68219
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100 0.46235
NM_024513.4(FYCO1):c.*2406G>A rs3796373 0.38430
NM_024513.4(FYCO1):c.*3498A>G rs7129 0.35978
NM_024513.4(FYCO1):c.*315G>A rs2291470 0.35781
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) rs3796375 0.35386
NM_024513.4(FYCO1):c.289-14T>A rs751552 0.34838
NM_024513.4(FYCO1):c.*662G>C rs3733103 0.34001
NM_024513.4(FYCO1):c.*2695A>T rs61519998 0.30131
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) rs3796376 0.15512
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) rs34147726 0.09577
NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys) rs33910087 0.08920
NM_024513.4(FYCO1):c.819A>G (p.Gln273=) rs13071283 0.08538
NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp) rs13059238 0.08514
NM_024513.4(FYCO1):c.2739C>T (p.Cys913=) rs13079869 0.08069
NM_024513.4(FYCO1):c.*2837C>G rs1994491 0.08051
NM_024513.4(FYCO1):c.3587+15C>T rs13069079 0.08025
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) rs13079478 0.07989
NM_024513.4(FYCO1):c.*654T>C rs75928798 0.07934
NM_024513.4(FYCO1):c.*2557G>A rs1994493 0.07933
NM_024513.4(FYCO1):c.*2611A>G rs1994492 0.07931
NM_024513.4(FYCO1):c.*1303C>G rs60431156 0.07452
NM_024513.4(FYCO1):c.*308A>G rs2291471 0.07001
NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630 0.05424
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) rs41289618 0.02650
NM_024513.4(FYCO1):c.*3439A>T rs113723273 0.02359
NM_024513.4(FYCO1):c.*2060C>A rs75347427 0.02289
NM_024513.4(FYCO1):c.*191G>A rs111480321 0.01912
NM_024513.4(FYCO1):c.845G>A (p.Arg282His) rs9875356 0.01862
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) rs36014492 0.01745
NM_024513.4(FYCO1):c.*466C>T rs73830632 0.01121
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620 0.00981
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) rs34068905 0.00893
NM_024513.4(FYCO1):c.*1056C>T rs114644287 0.00847
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450 0.00840
NM_024513.4(FYCO1):c.2294G>A (p.Arg765His) rs34266136 0.00838
NM_024513.4(FYCO1):c.*1419C>T rs116230454 0.00793
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) rs114548859 0.00520
NM_024513.4(FYCO1):c.*3057G>A rs537667165 0.00497
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612 0.00446
NM_024513.4(FYCO1):c.*21C>T rs145828463 0.00422
NM_024513.4(FYCO1):c.*724C>A rs148133261 0.00421
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) rs137986696 0.00410
NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met) rs35678722 0.00395
NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln) rs114145679 0.00391
NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln) rs116404907 0.00390
NM_024513.4(FYCO1):c.630+15G>T rs76456912 0.00389
NM_024513.4(FYCO1):c.*3725A>G rs547425913 0.00387
NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg) rs142618914 0.00387
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) rs6795530 0.00381
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) rs140002692 0.00363
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) rs35937665 0.00299
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) rs149818737 0.00295
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_024513.4(FYCO1):c.869G>A (p.Arg290His) rs146311777 0.00269
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916 0.00265
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) rs116798205 0.00264
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) rs73830668 0.00232
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln) rs113517878 0.00200
NM_024513.4(FYCO1):c.*2851C>T rs182350140 0.00165
NM_024513.4(FYCO1):c.*1173C>T rs187327525 0.00161
NM_024513.4(FYCO1):c.*1445C>T rs143753654 0.00148
NM_024513.4(FYCO1):c.*3063G>A rs570276173 0.00140
NM_024513.4(FYCO1):c.*3560C>A rs185588322 0.00130
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981 0.00127
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944 0.00126
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) rs3733101 0.00123
NM_024513.4(FYCO1):c.*678A>G rs141954427 0.00080
NM_024513.4(FYCO1):c.*342C>T rs536237093 0.00079
NM_024513.4(FYCO1):c.*709C>T rs559852330 0.00072
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762 0.00071
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738 0.00070
NM_024513.4(FYCO1):c.*3583C>T rs575175874 0.00068
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_024513.4(FYCO1):c.1887C>T (p.Val629=) rs140372149 0.00066
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg) rs146592828 0.00066
NM_024513.4(FYCO1):c.-214C>T rs576623682 0.00065
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_024513.4(FYCO1):c.*2771A>G rs759567503 0.00049
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) rs117543659 0.00041
NM_024513.4(FYCO1):c.*3366T>G rs886058550 0.00040
NM_024513.4(FYCO1):c.1549T>A (p.Phe517Ile) rs148594622 0.00038
NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) rs201764993 0.00038
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_024513.4(FYCO1):c.1121T>C (p.Met374Thr) rs139604029 0.00032
NM_024513.4(FYCO1):c.*3512T>A rs35867098 0.00031
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_024513.4(FYCO1):c.*2757C>A rs186073318 0.00025
NM_024513.4(FYCO1):c.*810G>A rs778420399 0.00021
NM_024513.4(FYCO1):c.*3326G>A rs982945628 0.00019
NM_024513.4(FYCO1):c.2815G>C (p.Ala939Pro) rs531750827 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_024513.4(FYCO1):c.337G>A (p.Val113Met) rs145897969 0.00016
NM_024513.4(FYCO1):c.443C>T (p.Ser148Leu) rs149818406 0.00016
NM_024513.4(FYCO1):c.748C>T (p.Arg250Trp) rs142017802 0.00016
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00015
NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp) rs3821885 0.00015
NM_024513.4(FYCO1):c.546G>A (p.Thr182=) rs201372127 0.00014
NM_024513.4(FYCO1):c.678C>T (p.Asn226=) rs140730556 0.00014
NM_024513.4(FYCO1):c.3151-12G>A rs372806650 0.00013
NM_024513.4(FYCO1):c.*176C>T rs544729621 0.00009
NM_024513.4(FYCO1):c.*3527G>A rs756372595 0.00009
NM_024513.4(FYCO1):c.2109G>A (p.Gln703=) rs766375149 0.00009
NM_024513.4(FYCO1):c.*3278G>A rs546718807 0.00008
NM_024513.4(FYCO1):c.*988C>A rs912973615 0.00008
NM_024513.4(FYCO1):c.4251+11G>A rs777307225 0.00007
NM_024513.4(FYCO1):c.*2286T>C rs886058557 0.00006
NM_024513.4(FYCO1):c.*2301A>G rs886058556 0.00006
NM_024513.4(FYCO1):c.*3191G>A rs886058552 0.00006
NM_024513.4(FYCO1):c.*3502A>T rs753979161 0.00006
NM_024513.4(FYCO1):c.1933G>A (p.Asp645Asn) rs145238648 0.00006
NM_024513.4(FYCO1):c.2359C>T (p.Arg787Trp) rs200040076 0.00006
NM_024513.4(FYCO1):c.2433C>G (p.Ser811Arg) rs367782717 0.00006
NM_024513.4(FYCO1):c.3935C>T (p.Ala1312Val) rs140583635 0.00006
NM_024513.4(FYCO1):c.*1270T>C rs1296033449 0.00005
NM_024513.4(FYCO1):c.*2889C>A rs886058553 0.00005
NM_024513.4(FYCO1):c.*1398G>A rs757256026 0.00004
NM_024513.4(FYCO1):c.*2343G>A rs987356196 0.00004
NM_024513.4(FYCO1):c.107C>T (p.Thr36Met) rs762961354 0.00004
NM_024513.4(FYCO1):c.1676C>T (p.Pro559Leu) rs759805930 0.00004
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) rs755502918 0.00004
NM_024513.4(FYCO1):c.*132C>T rs886058563 0.00003
NM_024513.4(FYCO1):c.2389G>A (p.Ala797Thr) rs751988341 0.00003
NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) rs149020169 0.00003
NM_024513.4(FYCO1):c.833G>A (p.Arg278Lys) rs753095430 0.00003
NM_024513.4(FYCO1):c.868C>T (p.Arg290Cys) rs760164181 0.00003
NM_024513.4(FYCO1):c.*1411G>A rs868776572 0.00002
NM_024513.4(FYCO1):c.*2741G>A rs886058554 0.00002
NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=) rs367690473 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_024513.4(FYCO1):c.*1211C>A rs541087301 0.00001
NM_024513.4(FYCO1):c.*3006G>A rs970550677 0.00001
NM_024513.4(FYCO1):c.*3283G>A rs886058551 0.00001
NM_024513.4(FYCO1):c.*59C>G rs1703099079 0.00001
NM_024513.4(FYCO1):c.*620G>A rs886058562 0.00001
NM_024513.4(FYCO1):c.1098C>T (p.Ala366=) rs201904937 0.00001
NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr) rs886058570 0.00001
NM_024513.4(FYCO1):c.2399G>A (p.Arg800Gln) rs773582689 0.00001
NM_024513.4(FYCO1):c.2507C>A (p.Ala836Asp) rs766825040 0.00001
NM_024513.4(FYCO1):c.2552G>A (p.Arg851His) rs145893350 0.00001
NM_024513.4(FYCO1):c.297A>T (p.Thr99=) rs779232144 0.00001
NM_024513.4(FYCO1):c.3413A>G (p.Glu1138Gly) rs886058566 0.00001
NM_024513.4(FYCO1):c.3587G>C (p.Arg1196Thr) rs1705557579 0.00001
NM_024513.4(FYCO1):c.3809C>T (p.Thr1270Ile) rs775300505 0.00001
NM_024513.4(FYCO1):c.3959C>A (p.Thr1320Asn) rs201278075 0.00001
NM_024513.4(FYCO1):c.*1074C>T rs1703060519
NM_024513.4(FYCO1):c.*1149C>G rs886058561
NM_024513.4(FYCO1):c.*1185A>T rs538032998
NM_024513.4(FYCO1):c.*1235C>A rs886058560
NM_024513.4(FYCO1):c.*1285G>C rs780841652
NM_024513.4(FYCO1):c.*1349T>C rs1703050607
NM_024513.4(FYCO1):c.*1415G>A rs1488374
NM_024513.4(FYCO1):c.*1686A>G rs527649068
NM_024513.4(FYCO1):c.*1748C>T rs149016664
NM_024513.4(FYCO1):c.*2238C>A rs144987706
NM_024513.4(FYCO1):c.*2275G>A rs773693634
NM_024513.4(FYCO1):c.*2307C>G rs886058555
NM_024513.4(FYCO1):c.*3178G>T rs1047444
NM_024513.4(FYCO1):c.*3691A>C rs1322082910
NM_024513.4(FYCO1):c.*431A>G rs965506856
NM_024513.4(FYCO1):c.1464A>T (p.Ala488=) rs886058569
NM_024513.4(FYCO1):c.150G>A (p.Glu50=) rs886058572
NM_024513.4(FYCO1):c.1628_1629del (p.Lys543fs) rs766571780
NM_024513.4(FYCO1):c.1651G>T (p.Gly551Cys) rs775726960
NM_024513.4(FYCO1):c.1765G>A (p.Glu589Lys) rs886058568
NM_024513.4(FYCO1):c.1826G>T (p.Ser609Ile) rs768501163
NM_024513.4(FYCO1):c.2121C>T (p.Gly707=) rs761520600
NM_024513.4(FYCO1):c.2200G>C (p.Glu734Gln) rs750356269
NM_024513.4(FYCO1):c.2455G>T (p.Val819Phe) rs749304983
NM_024513.4(FYCO1):c.2780C>T (p.Ala927Val) rs1706029083
NM_024513.4(FYCO1):c.2932C>G (p.Leu978Val) rs886058567
NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn) rs1374835987
NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) rs886058571
NM_024513.4(FYCO1):c.3269+10A>T rs1705867971
NM_024513.4(FYCO1):c.3433C>G (p.Leu1145Val) rs1705732142
NM_024513.4(FYCO1):c.3566T>C (p.Met1189Thr) rs1705562623
NM_024513.4(FYCO1):c.368A>C (p.Gln123Pro) rs998386465
NM_024513.4(FYCO1):c.3920C>A (p.Ser1307Tyr) rs1489293292
NM_024513.4(FYCO1):c.3993C>T (p.Pro1331=) rs752606656
NM_024513.4(FYCO1):c.3999G>T (p.Gly1333=) rs751515767
NM_024513.4(FYCO1):c.4042A>G (p.Ile1348Val) rs886058565
NM_024513.4(FYCO1):c.4078T>C (p.Phe1360Leu) rs886058564
NM_024513.4(FYCO1):c.708A>G (p.Arg236=) rs1706249535
NM_024513.4(FYCO1):c.793G>A (p.Ala265Thr) rs1706240236
NM_024513.4(FYCO1):c.844C>G (p.Arg282Gly) rs201358723
NM_024513.4(FYCO1):c.844C>T (p.Arg282Cys) rs201358723
NM_024513.4(FYCO1):c.933T>C (p.Thr311=) rs202166104

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