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: 518
Download table as spreadsheet
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_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_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_004431.5(EPHA2):c.2169C>T (p.Ile723=) rs372191320 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_001538.4(HSF4):c.-419C>T rs562489000 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_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_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.1127T>C (p.Leu376Pro) rs373962350 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.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.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_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_001374675.1(HSF4):c.1137G>A (p.Pro379=) rs369862977 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_001538.3(HSF4):c.-852_-851CG[4] rs763526640
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.1102G>C (p.Glu368Gln) rs587673409
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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.