ClinVar Miner

List of variants reported as likely benign for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 524
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HGVS dbSNP gnomAD frequency
NM_001538.4(HSF4):c.-250C>T rs140579779 0.02554
NM_012064.4(MIP):c.319G>A (p.Val107Ile) rs74641138 0.01986
NM_012064.4(MIP):c.*284T>C rs148601602 0.01399
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592 0.01160
NM_002340.6(LSS):c.752C>T (p.Ala251Val) rs61735801 0.00978
NM_012064.4(MIP):c.*774G>C rs66826398 0.00894
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_001161748.2(LIM2):c.175+11C>T rs73933350 0.00824
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_014290.3(TDRD7):c.1800T>C (p.Cys600=) rs12552100 0.00769
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060 0.00540
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612 0.00446
NM_024513.4(FYCO1):c.*724C>A rs148133261 0.00421
NM_000394.4(CRYAA):c.*102T>C rs569866289 0.00411
NM_000394.4(CRYAA):c.*103C>T rs537385698 0.00410
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly) rs147831812 0.00394
NM_024513.4(FYCO1):c.*3725A>G rs547425913 0.00387
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_012064.4(MIP):c.-4T>C rs117788190 0.00325
NM_001195.5(BFSP1):c.418A>G (p.Met140Val) rs142092768 0.00275
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_004431.5(EPHA2):c.2374C>A (p.Arg792=) rs55869078 0.00255
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_005267.5(GJA8):c.-33C>T rs587768589 0.00232
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) rs73830668 0.00232
NM_001887.4(CRYBB1):c.432+15G>A rs181227194 0.00226
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu) rs145770544 0.00202
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln) rs113517878 0.00200
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile) rs199742128 0.00196
NM_003571.4(BFSP2):c.954G>T (p.Arg318Ser) rs146972354 0.00186
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_018238.4(AGK):c.*992G>A rs191308473 0.00172
NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu) rs77431464 0.00169
NM_018238.4(AGK):c.416C>G (p.Thr139Arg) rs144706178 0.00166
NM_024513.4(FYCO1):c.*2851C>T rs182350140 0.00165
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_018238.4(AGK):c.29A>G (p.Asn10Ser) rs35269563 0.00161
NM_024513.4(FYCO1):c.*1173C>T rs187327525 0.00161
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His) rs138818894 0.00159
NM_001374675.1(HSF4):c.561+4T>G rs180744555 0.00158
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln) rs139176878 0.00147
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile) rs145592908 0.00139
NM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg) rs139535132 0.00133
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_020989.4(CRYGC):c.271C>T (p.Arg91Trp) rs140120148 0.00116
NM_003380.5(VIM):c.542A>C (p.Asp181Ala) rs149942621 0.00115
NM_003380.5(VIM):c.749A>G (p.Gln250Arg) rs145152785 0.00111
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) rs17637756 0.00101
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
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_001195.5(BFSP1):c.1775C>T (p.Ala592Val) rs145703098 0.00069
NM_005360.5(MAF):c.649G>A (p.Gly217Ser) rs977933498 0.00068
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_020989.4(CRYGC):c.256G>T (p.Val86Phe) rs150910237 0.00066
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_001195.5(BFSP1):c.403C>T (p.Leu135Phe) rs151173407 0.00065
NM_001374675.1(HSF4):c.81G>A (p.Leu27=) rs375172660 0.00063
NM_004076.5(CRYBB3):c.75+18G>A rs141199896 0.00063
NM_001161748.2(LIM2):c.175+83A>G rs201295572 0.00055
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_004431.5(EPHA2):c.2579G>A (p.Arg860His) rs139225059 0.00049
NM_006891.4(CRYGD):c.264C>G (p.His88Gln) rs75156162 0.00045
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr) rs139787163 0.00036
NM_005267.5(GJA8):c.439C>T (p.Leu147=) rs145974798 0.00036
NM_024513.4(FYCO1):c.1425G>A (p.Glu475=) rs144119495 0.00036
NM_014290.3(TDRD7):c.1341C>T (p.Thr447=) rs143511562 0.00035
NM_014290.3(TDRD7):c.2079+7C>T rs201253435 0.00035
NM_001374675.1(HSF4):c.627-11C>T rs199856104 0.00034
NM_014290.3(TDRD7):c.444C>T (p.Asn148=) rs144510531 0.00033
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_001195.5(BFSP1):c.183C>T (p.Leu61=) rs545346553 0.00030
NM_001161748.2(LIM2):c.175+50G>A rs147625714 0.00029
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) rs139706467 0.00029
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) rs779251021 0.00029
NM_003380.5(VIM):c.987A>G (p.Glu329=) rs147429387 0.00026
NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn) rs200708134 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_000394.4(CRYAA):c.198C>T (p.Ser66=) rs527765691 0.00024
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser) rs140057151 0.00024
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val) rs148445016 0.00023
NM_004431.5(EPHA2):c.2472C>T (p.His824=) rs145425916 0.00022
NM_018238.4(AGK):c.*1467T>C rs140297904 0.00022
NM_000394.4(CRYAA):c.189+14C>T rs191516889 0.00021
NM_006005.3(WFS1):c.712+19C>T rs376973865 0.00021
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys) rs370785666 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.315+18G>A rs375473654 0.00019
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln) rs148119487 0.00017
NM_003571.4(BFSP2):c.51C>T (p.Ser17=) rs141310092 0.00017
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) rs201263814 0.00016
NM_001374675.1(HSF4):c.1476C>A (p.Pro492=) rs367756178 0.00016
NM_003380.5(VIM):c.384T>C (p.Asn128=) rs147857896 0.00016
NM_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 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_005267.5(GJA8):c.-24A>G rs377431608 0.00014
NM_012064.4(MIP):c.378C>T (p.Ser126=) rs35033450 0.00013
NM_018238.4(AGK):c.222-13C>T rs374601217 0.00013
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) rs577821330 0.00013
NM_018238.4(AGK):c.852G>A (p.Ala284=) rs183816817 0.00013
NM_145649.5(GCNT2):c.1155C>T (p.Arg385=) rs370574556 0.00013
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) rs199755934 0.00011
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) rs76577786 0.00011
NM_012064.4(MIP):c.490G>A (p.Val164Ile) rs149279854 0.00011
NM_003380.5(VIM):c.1360-17T>G rs764183925 0.00010
NM_004076.5(CRYBB3):c.*129G>A rs561311265 0.00010
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys) rs201941686 0.00010
NM_004431.5(EPHA2):c.2671G>A (p.Val891Met) rs139168333 0.00010
NM_005360.5(MAF):c.285C>A (p.Thr95=) rs369752568 0.00010
NM_001161748.2(LIM2):c.369C>T (p.Thr123=) rs200033512 0.00009
NM_001491.3(GCNT2):c.816C>T (p.Ala272=) rs773819612 0.00009
NM_001887.4(CRYBB1):c.510C>T (p.Asp170=) rs748025775 0.00009
NM_006005.3(WFS1):c.1494C>T (p.Val498=) rs778206175 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.862-19C>T rs370767782 0.00009
NM_014290.3(TDRD7):c.391A>G (p.Asn131Asp) rs200841827 0.00009
NM_021954.4(GJA3):c.672C>T (p.His224=) rs757939318 0.00009
NM_024513.4(FYCO1):c.2109G>A (p.Gln703=) rs766375149 0.00009
NM_000496.3(CRYBB2):c.231T>C (p.Gly77=) rs761853361 0.00008
NM_001195.5(BFSP1):c.735+9G>A rs774559581 0.00008
NM_001374675.1(HSF4):c.510G>A (p.Glu170=) rs372473149 0.00008
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) rs548415089 0.00008
NM_006005.3(WFS1):c.393C>T (p.Val131=) rs758199900 0.00008
NM_001886.3(CRYBA4):c.61G>A (p.Gly21Ser) rs201421932 0.00007
NM_004431.5(EPHA2):c.2682G>A (p.Arg894=) rs747921529 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_018238.4(AGK):c.519-5T>C rs755469922 0.00007
NM_001161748.2(LIM2):c.326-15G>A rs752385175 0.00006
NM_001887.4(CRYBB1):c.507C>T (p.Asp169=) rs549883505 0.00006
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
NM_004431.5(EPHA2):c.153+15G>A rs753000983 0.00006
NM_004431.5(EPHA2):c.2898G>A (p.Lys966=) rs142825252 0.00006
NM_004431.5(EPHA2):c.606C>T (p.Pro202=) rs201175373 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.315+17C>T rs766977344 0.00006
NM_006005.3(WFS1):c.514C>T (p.Leu172=) rs371632935 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_017541.4(CRYGS):c.265-12G>A rs367680173 0.00006
NM_018238.4(AGK):c.327C>T (p.Leu109=) rs148971840 0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.976-20A>G rs201192380 0.00006
NM_018378.3(FBXL8):c.*277C>T rs562489000 0.00006
NM_020989.4(CRYGC):c.55A>G (p.Thr19Ala) rs546890057 0.00006
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) rs777072078 0.00005
NM_006005.3(WFS1):c.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_018238.4(AGK):c.621C>T (p.Thr207=) rs140431258 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_020989.4(CRYGC):c.253-7C>T rs754304396 0.00005
NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=) rs759845569 0.00005
NM_001195.5(BFSP1):c.627+9T>G rs776455142 0.00004
NM_001374675.1(HSF4):c.394C>T (p.Arg132Cys) rs769736356 0.00004
NM_001374675.1(HSF4):c.854+5G>A rs775017771 0.00004
NM_001886.3(CRYBA4):c.158+1G>A rs752903519 0.00004
NM_001887.4(CRYBB1):c.717C>T (p.Leu239=) rs779509832 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004431.5(EPHA2):c.1071C>T (p.Arg357=) rs769561791 0.00004
NM_004431.5(EPHA2):c.1380G>A (p.Pro460=) rs767195093 0.00004
NM_004431.5(EPHA2):c.141G>A (p.Pro47=) rs370213656 0.00004
NM_004431.5(EPHA2):c.1500C>T (p.Asp500=) rs746512965 0.00004
NM_004431.5(EPHA2):c.1533G>A (p.Thr511=) rs550085875 0.00004
NM_004431.5(EPHA2):c.1583-15G>C rs376854026 0.00004
NM_004431.5(EPHA2):c.681C>T (p.Ala227=) rs770700471 0.00004
NM_004431.5(EPHA2):c.717G>A (p.Gly239=) rs377158184 0.00004
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) rs375408391 0.00004
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) rs759746525 0.00004
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) rs777254962 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 0.00004
NM_006891.3(CRYGD):c.-77T>C rs575552206 0.00004
NM_006891.4(CRYGD):c.238C>T (p.Arg80Cys) rs768608809 0.00004
NM_018238.4(AGK):c.101+7A>C rs373899577 0.00004
NM_018238.4(AGK):c.142-11T>C rs899737243 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg) rs146010173 0.00004
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) rs755502918 0.00004
NM_001195.5(BFSP1):c.735+17C>T rs368674829 0.00003
NM_001374675.1(HSF4):c.1127T>C (p.Leu376Pro) rs373962350 0.00003
NM_001374675.1(HSF4):c.1137G>A (p.Pro379=) rs369862977 0.00003
NM_001374675.1(HSF4):c.523C>G (p.Arg175Gly) rs377009893 0.00003
NM_003380.5(VIM):c.1009-8C>A rs372984113 0.00003
NM_004431.5(EPHA2):c.1734G>A (p.Lys578=) rs1156858324 0.00003
NM_004431.5(EPHA2):c.2116-6C>T rs765586631 0.00003
NM_004431.5(EPHA2):c.2169C>T (p.Ile723=) rs372191320 0.00003
NM_004431.5(EPHA2):c.390C>T (p.Tyr130=) rs374988801 0.00003
NM_005267.5(GJA8):c.477C>T (p.Thr159=) rs782140553 0.00003
NM_005267.5(GJA8):c.933C>T (p.Asp311=) rs587747861 0.00003
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.882C>T (p.His294=) rs571928866 0.00003
NM_018238.4(AGK):c.221+9G>A rs200123164 0.00003
NM_018238.4(AGK):c.589-20G>T rs751876434 0.00003
NM_020989.4(CRYGC):c.258C>T (p.Val86=) rs761447168 0.00003
NM_024513.4(FYCO1):c.2844G>A (p.Glu948=) rs182162227 0.00003
NM_176812.5(CHMP4B):c.240G>A (p.Ala80=) rs774485925 0.00003
NM_000394.4(CRYAA):c.111G>A (p.Leu37=) rs151213687 0.00002
NM_000496.3(CRYBB2):c.279C>T (p.Ser93=) rs371287851 0.00002
NM_003571.4(BFSP2):c.-4G>A rs534216602 0.00002
NM_003571.4(BFSP2):c.24G>A (p.Val8=) rs777311531 0.00002
NM_003571.4(BFSP2):c.522C>T (p.Leu174=) rs375822049 0.00002
NM_004076.5(CRYBB3):c.327+13C>T rs1013210463 0.00002
NM_004431.5(EPHA2):c.1466G>T (p.Gly489Val) rs140392218 0.00002
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=) rs755489260 0.00002
NM_012064.4(MIP):c.*49G>A rs746044208 0.00002
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) rs111320552 0.00002
NM_018238.4(AGK):c.243A>G (p.Glu81=) rs745864268 0.00002
NM_018238.4(AGK):c.63G>C (p.Leu21=) rs779484397 0.00002
NM_021954.4(GJA3):c.522G>A (p.Glu174=) rs772086761 0.00002
NM_024513.4(FYCO1):c.1677G>A (p.Pro559=) rs928579946 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=) rs760220303 0.00001
NM_001886.3(CRYBA4):c.40-7G>T rs764078479 0.00001
NM_001886.3(CRYBA4):c.81C>T (p.His27=) rs138148141 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_003571.4(BFSP2):c.*209C>T rs150374124 0.00001
NM_003571.4(BFSP2):c.730-7T>C rs75746794 0.00001
NM_004076.5(CRYBB3):c.51T>C (p.His17=) rs1449380333 0.00001
NM_004431.5(EPHA2):c.1062C>T (p.Ser354=) rs781610786 0.00001
NM_004431.5(EPHA2):c.1312+10del rs751606166 0.00001
NM_004431.5(EPHA2):c.1814C>T (p.Thr605Ile) rs753345828 0.00001
NM_004431.5(EPHA2):c.1950C>T (p.Ala650=) rs370135733 0.00001
NM_004431.5(EPHA2):c.2116-9C>T rs753038083 0.00001
NM_004431.5(EPHA2):c.2326-4G>A rs781762535 0.00001
NM_005208.5(CRYBA1):c.357+7C>T rs1473744071 0.00001
NM_005208.5(CRYBA1):c.500+17G>A rs761853246 0.00001
NM_005267.5(GJA8):c.1027G>A (p.Glu343Lys) rs782817804 0.00001
NM_005267.5(GJA8):c.411C>A (p.Gly137=) rs782388266 0.00001
NM_005360.5(MAF):c.942C>T (p.His314=) rs765806184 0.00001
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) rs746433560 0.00001
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 0.00001
NM_006005.3(WFS1):c.33C>A (p.Ser11=) rs1185590827 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_014290.3(TDRD7):c.2223T>C (p.Thr741=) rs374967438 0.00001
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) rs201216195 0.00001
NM_018238.4(AGK):c.*58G>A rs562245960 0.00001
NM_018238.4(AGK):c.1197G>A (p.Leu399=) rs139412235 0.00001
NM_018238.4(AGK):c.498C>T (p.Ala166=) rs748557845 0.00001
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NM_024513.4(FYCO1):c.108G>A (p.Thr36=) rs558777911 0.00001
NM_024513.4(FYCO1):c.1659C>T (p.Leu553=) rs746026639 0.00001
NM_024513.4(FYCO1):c.2199C>T (p.Leu733=) rs552928719 0.00001
NM_024513.4(FYCO1):c.2334G>A (p.Leu778=) rs369350326 0.00001
NM_024513.4(FYCO1):c.2865G>A (p.Gln955=) rs1575368474 0.00001
NM_024513.4(FYCO1):c.4254C>A (p.Val1418=) rs1553620269 0.00001
NM_024513.4(FYCO1):c.816G>A (p.Glu272=) rs375970181 0.00001
NM_000394.4(CRYAA):c.159C>T (p.Phe53=)
NM_000394.4(CRYAA):c.189+15G>A rs377222721
NM_000394.4(CRYAA):c.225C>T (p.Leu75=)
NM_000394.4(CRYAA):c.249G>A (p.Glu83=)
NM_000394.4(CRYAA):c.291C>T (p.His97=)
NM_000394.4(CRYAA):c.303C>T (p.Asn101=)
NM_000394.4(CRYAA):c.486G>A (p.Ser162=) rs376490511
NM_000496.3(CRYBB2):c.135C>T (p.Gly45=)
NM_000496.3(CRYBB2):c.307-12C>T
NM_000496.3(CRYBB2):c.449+18C>T
NM_000496.3(CRYBB2):c.450-16A>C
NM_000496.3(CRYBB2):c.450-19A>C
NM_001161748.2(LIM2):c.-27C>T rs113926789
NM_001161748.2(LIM2):c.144C>T (p.Gly48=)
NM_001161748.2(LIM2):c.222C>T (p.Cys74=)
NM_001161748.2(LIM2):c.460+13A>T
NM_001161748.2(LIM2):c.461-15C>A
NM_001195.5(BFSP1):c.1884C>T (p.Ile628=)
NM_001195.5(BFSP1):c.30C>T (p.Thr10=)
NM_001195.5(BFSP1):c.366G>A (p.Glu122=)
NM_001195.5(BFSP1):c.378-16T>C rs1600661739
NM_001195.5(BFSP1):c.384A>G (p.Glu128=)
NM_001195.5(BFSP1):c.561C>T (p.Ile187=)
NM_001195.5(BFSP1):c.628-14C>T
NM_001195.5(BFSP1):c.93C>A (p.Ala31=)
NM_001195.5(BFSP1):c.956+7G>C rs202146533
NM_001195.5(BFSP1):c.957-3C>T
NM_001289808.2(CRYAB):c.324+13dup rs782303631
NM_001374675.1(HSF4):c.1324+8T>A rs2145929301
NM_001374675.1(HSF4):c.330C>G (p.Arg110=) rs754881447
NM_001374675.1(HSF4):c.361-17G>A
NM_001374675.1(HSF4):c.561+16del
NM_001374675.1(HSF4):c.730-22G>A
NM_001491.3(GCNT2):c.558C>T (p.Ile186=) rs763988372
NM_001886.3(CRYBA4):c.108G>A (p.Val36=)
NM_001886.3(CRYBA4):c.159-21_159-20inv
NM_001886.3(CRYBA4):c.258C>T (p.Tyr86=)
NM_001886.3(CRYBA4):c.27G>A (p.Ala9=)
NM_001886.3(CRYBA4):c.318G>A (p.Arg106=)
NM_001886.3(CRYBA4):c.384C>T (p.Ser128=)
NM_001886.3(CRYBA4):c.40-11T>C
NM_001886.3(CRYBA4):c.510C>T (p.Ser170=)
NM_001886.3(CRYBA4):c.540C>A (p.Gly180=)
NM_001886.3(CRYBA4):c.60C>T (p.Asp20=)
NM_001886.3(CRYBA4):c.89C>T (p.Thr30Met)
NM_001886.3(CRYBA4):c.90G>A (p.Thr30=)
NM_001887.4(CRYBB1):c.155C>A (p.Ala52Glu) rs533765538
NM_003380.5(VIM):c.1122G>A (p.Glu374=)
NM_003380.5(VIM):c.1360-18G>T
NM_003380.5(VIM):c.1368C>T (p.Asn456=)
NM_003380.5(VIM):c.423A>G (p.Gln141=) rs2131679660
NM_003380.5(VIM):c.563+15A>C
NM_003380.5(VIM):c.624+17C>G
NM_003380.5(VIM):c.624+7A>C rs376197279
NM_003380.5(VIM):c.624+7A>G
NM_003380.5(VIM):c.882+20G>A
NM_003380.5(VIM):c.990G>C (p.Val330=)
NM_003571.4(BFSP2):c.*140del rs139190094
NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu) rs148759360
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) rs375380005
NM_003571.4(BFSP2):c.859C>A (p.Arg287=) rs104893685
NM_003571.4(BFSP2):c.888T>G (p.Ala296=) rs199694156
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=) rs139487214
NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)
NM_004076.5(CRYBB3):c.75+7G>C
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)
NM_004431.5(EPHA2):c.1200C>T (p.Ser400=)
NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala) rs1181387702
NM_004431.5(EPHA2):c.1428+18G>A
NM_004431.5(EPHA2):c.153+20G>A
NM_004431.5(EPHA2):c.1908G>A (p.Ser636=)
NM_004431.5(EPHA2):c.2218C>T (p.Leu740=)
NM_004431.5(EPHA2):c.2235C>T (p.Ile745=) rs2124200644
NM_004431.5(EPHA2):c.252C>T (p.Asn84=)
NM_004431.5(EPHA2):c.2634T>C (p.Pro878=)
NM_004431.5(EPHA2):c.267A>G (p.Gly89=)
NM_004431.5(EPHA2):c.2694G>A (p.Thr898=)
NM_004431.5(EPHA2):c.438G>A (p.Ala146=)
NM_004431.5(EPHA2):c.824-7C>T rs1301165838
NM_005208.5(CRYBA1):c.173G>A (p.Arg58His) rs147994059
NM_005208.5(CRYBA1):c.309T>C (p.Asn103=) rs759439567
NM_005208.5(CRYBA1):c.31+7A>G rs757547144
NM_005208.5(CRYBA1):c.358-11C>G
NM_005210.4(CRYGB):c.179G>A (p.Arg60His)
NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)
NM_005210.4(CRYGB):c.9+11_9+13delinsAAA rs386654563
NM_005267.5(GJA8):c.*12dup rs781808729
NM_005267.5(GJA8):c.117G>A (p.Thr39=)
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) rs2149016663
NM_005267.5(GJA8):c.150C>T (p.Ser50=)
NM_005267.5(GJA8):c.180C>T (p.Gly60=)
NM_005267.5(GJA8):c.264G>C (p.Pro88=) rs1227166611
NM_005267.5(GJA8):c.270G>C (p.Leu90=) rs1651886484
NM_005267.5(GJA8):c.426G>A (p.Arg142=)
NM_005267.5(GJA8):c.528G>T (p.Arg176=)
NM_005267.5(GJA8):c.756C>T (p.Leu252=)
NM_005267.5(GJA8):c.978G>A (p.Val326=)
NM_005360.5(MAF):c.-30GGC[4] rs5818251
NM_005360.5(MAF):c.1119-12T>C
NM_005360.5(MAF):c.138C>T (p.Cys46=)
NM_005360.5(MAF):c.264G>A (p.Leu88=)
NM_005360.5(MAF):c.308C>A (p.Pro103His)
NM_005360.5(MAF):c.435_440del (p.143GA[2]) rs753758729
NM_005360.5(MAF):c.528C>G (p.Gly176=) rs2143809805
NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)
NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.696C>T (p.Gly232=) rs868331592
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)
NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)
NM_005360.5(MAF):c.726G>T (p.Ala242=)
NM_005360.5(MAF):c.810T>G (p.Ser270=) rs2143802343
NM_005360.5(MAF):c.828G>A (p.Arg276=)
NM_005360.5(MAF):c.861C>T (p.Ile287=)
NM_005360.5(MAF):c.939A>G (p.Arg313=) rs1231719173
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) rs1730893286
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.316-14T>C rs749922151
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.713-19G>A rs776845938
NM_006005.3(WFS1):c.862-18G>A rs763167503
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254
NM_012064.4(MIP):c.*1201ATT[2] rs540359096
NM_012064.4(MIP):c.714G>A (p.Lys238=)
NM_012064.4(MIP):c.98G>A (p.Arg33His) rs139963297
NM_014290.3(TDRD7):c.1572C>T (p.Ala524=)
NM_014290.3(TDRD7):c.1857G>A (p.Leu619=)
NM_014290.3(TDRD7):c.2025T>A (p.Gly675=) rs1828958858
NM_014290.3(TDRD7):c.2338A>G (p.Ile780Val)
NM_014290.3(TDRD7):c.2412+8A>G
NM_014290.3(TDRD7):c.2841A>G (p.Leu947=)
NM_014290.3(TDRD7):c.2915+11G>A
NM_014290.3(TDRD7):c.624T>C (p.Thr208=)
NM_014290.3(TDRD7):c.825A>G (p.Gln275=)
NM_017541.4(CRYGS):c.305G>A (p.Gly102Glu)
NM_018238.4(AGK):c.101+13C>G
NM_018238.4(AGK):c.101+4_101+7dup
NM_018238.4(AGK):c.1046+11T>C
NM_018238.4(AGK):c.1046+7G>T
NM_018238.4(AGK):c.1047-12C>G
NM_018238.4(AGK):c.1047-7C>T
NM_018238.4(AGK):c.1047-8G>A
NM_018238.4(AGK):c.1068C>T (p.Pro356=)
NM_018238.4(AGK):c.1077C>T (p.His359=)
NM_018238.4(AGK):c.1089G>A (p.Thr363=)
NM_018238.4(AGK):c.1131+19G>A
NM_018238.4(AGK):c.1132-13C>A
NM_018238.4(AGK):c.1140G>A (p.Gly380=)
NM_018238.4(AGK):c.1176G>C (p.Ala392=)
NM_018238.4(AGK):c.1236G>A (p.Lys412=)
NM_018238.4(AGK):c.1260C>T (p.Pro420=)
NM_018238.4(AGK):c.1263C>A (p.Thr421=) rs1166298575
NM_018238.4(AGK):c.141+16del
NM_018238.4(AGK):c.142-14C>G
NM_018238.4(AGK):c.142-18T>G
NM_018238.4(AGK):c.142-4T>C
NM_018238.4(AGK):c.142-8T>A
NM_018238.4(AGK):c.174A>G (p.Ala58=)
NM_018238.4(AGK):c.221+13G>A
NM_018238.4(AGK):c.222-20A>G
NM_018238.4(AGK):c.237A>G (p.Leu79=)
NM_018238.4(AGK):c.267T>C (p.His89=)
NM_018238.4(AGK):c.298-18G>A
NM_018238.4(AGK):c.298-18G>C
NM_018238.4(AGK):c.298-18G>T
NM_018238.4(AGK):c.391-13A>G rs752545115
NM_018238.4(AGK):c.391-6T>C
NM_018238.4(AGK):c.396T>C (p.Val132=)
NM_018238.4(AGK):c.411A>T (p.Arg137=)
NM_018238.4(AGK):c.423+19T>C
NM_018238.4(AGK):c.424-14C>T
NM_018238.4(AGK):c.424-4C>T
NM_018238.4(AGK):c.424-5C>A rs113599212
NM_018238.4(AGK):c.424-5C>G rs113599212
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.424-6C>T
NM_018238.4(AGK):c.424-8C>G
NM_018238.4(AGK):c.462G>A (p.Leu154=)
NM_018238.4(AGK):c.492C>G (p.Leu164=) rs1485021759
NM_018238.4(AGK):c.495T>C (p.Phe165=)
NM_018238.4(AGK):c.519-19A>G
NM_018238.4(AGK):c.519-4_519-3del rs770005760
NM_018238.4(AGK):c.573T>C (p.Asp191=)
NM_018238.4(AGK):c.579G>A (p.Leu193=) rs745967065
NM_018238.4(AGK):c.621C>G (p.Thr207=)
NM_018238.4(AGK):c.654C>A (p.Gly218=)
NM_018238.4(AGK):c.654C>T (p.Gly218=)
NM_018238.4(AGK):c.668+9T>C
NM_018238.4(AGK):c.669-16C>A
NM_018238.4(AGK):c.717C>T (p.Ser239=)
NM_018238.4(AGK):c.726+18T>G
NM_018238.4(AGK):c.726+9G>T
NM_018238.4(AGK):c.819T>C (p.Pro273=)
NM_018238.4(AGK):c.877+13G>A
NM_018238.4(AGK):c.877+19A>G
NM_018238.4(AGK):c.878-15A>T
NM_018238.4(AGK):c.878-17C>T
NM_018238.4(AGK):c.878-6C>T rs2117014175
NM_018238.4(AGK):c.900G>A (p.Pro300=)
NM_018238.4(AGK):c.924G>A (p.Leu308=)
NM_018238.4(AGK):c.954G>A (p.Arg318=)
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.972G>A (p.Pro324=)
NM_018238.4(AGK):c.976-9C>T rs746375297
NM_018378.3(FBXL8):c.807_808dup (p.Val270fs) rs763526640
NM_020989.4(CRYGC):c.135C>G (p.Leu45=) rs1437464751
NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg)
NM_021954.4(GJA3):c.1107C>T (p.Gly369=)
NM_021954.4(GJA3):c.1203G>A (p.Ala401=)
NM_021954.4(GJA3):c.519C>T (p.Phe173=)
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.2328G>A (p.Ala776=)
NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu) rs71622515
NM_024513.4(FYCO1):c.3270-6C>T rs113516581
NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)
NM_024513.4(FYCO1):c.3438-9_3438-8del rs536305273
NM_024513.4(FYCO1):c.3645C>T (p.His1215=)
NM_024513.4(FYCO1):c.3799+12G>A
NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met)
NM_024513.4(FYCO1):c.417C>T (p.Ser139=)
NM_024513.4(FYCO1):c.990G>A (p.Glu330=)
NM_176812.5(CHMP4B):c.368+15G>A rs199832068

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