ClinVar Miner

List of variants reported as uncertain significance for cataract by Illumina Laboratory Services, Illumina

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 546
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HGVS dbSNP gnomAD frequency
NM_001161748.2(LIM2):c.231C>T (p.Ser77=) rs8111243 0.01252
NM_018238.4(AGK):c.*1024C>T rs78124534 0.00609
NM_024513.4(FYCO1):c.*3057G>A rs537667165 0.00497
NM_014290.3(TDRD7):c.-83G>C rs373486700 0.00411
NM_018238.4(AGK):c.*933C>T rs73171606 0.00289
NM_014290.3(TDRD7):c.*191G>A rs185806845 0.00279
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_001538.4(HSF4):c.-186C>T rs772601480 0.00221
NM_001538.4(HSF4):c.-191C>G rs769427775 0.00220
NM_014290.3(TDRD7):c.-64A>G rs879522205 0.00204
NM_024513.4(FYCO1):c.*1445C>T rs143753654 0.00148
NM_024513.4(FYCO1):c.*3063G>A rs570276173 0.00140
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_014290.3(TDRD7):c.231C>T (p.Cys77=) rs143579801 0.00129
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_001538.4(HSF4):c.-244A>C rs754262946 0.00091
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys) rs140697341 0.00086
NM_153427.2(PITX2):c.-1137G>A rs141922822 0.00086
NM_024513.4(FYCO1):c.*678A>G rs141954427 0.00080
NM_024513.4(FYCO1):c.*342C>T rs536237093 0.00079
NM_001538.4(HSF4):c.-211A>G rs369313270 0.00078
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_001161748.2(LIM2):c.57G>A (p.Leu19=) rs142517355 0.00068
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_001161748.2(LIM2):c.175+77T>C rs145192236 0.00063
NM_018238.4(AGK):c.*621T>C rs192654792 0.00060
NM_004431.5(EPHA2):c.*284C>T rs537231128 0.00053
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_024513.4(FYCO1):c.*2771A>G rs759567503 0.00049
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) rs143688085 0.00048
NM_014290.3(TDRD7):c.189G>C (p.Glu63Asp) rs144477083 0.00046
NM_153427.2(PITX2):c.-436G>C rs1026660025 0.00045
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_000325.6(PITX2):c.*687A>G rs185925533 0.00043
NM_014290.3(TDRD7):c.-47G>A rs572084541 0.00043
NM_018238.4(AGK):c.*197C>T rs987287830 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr) rs139107757 0.00042
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_024513.4(FYCO1):c.*3366T>G rs886058550 0.00040
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
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_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_014290.3(TDRD7):c.2079+7C>T rs201253435 0.00035
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_003571.4(BFSP2):c.*159T>G rs540920442 0.00034
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His) rs149232677 0.00034
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His) rs151051126 0.00034
NM_014290.3(TDRD7):c.2791C>T (p.Pro931Ser) rs146083361 0.00033
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_000325.6(PITX2):c.*522T>C rs188349821 0.00032
NM_024513.4(FYCO1):c.1121T>C (p.Met374Thr) rs139604029 0.00032
NM_021954.4(GJA3):c.*2093A>C rs1040384781 0.00031
NM_024513.4(FYCO1):c.*3512T>A rs35867098 0.00031
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_001161748.2(LIM2):c.175+50G>A rs147625714 0.00029
NM_014290.3(TDRD7):c.2665A>G (p.Met889Val) rs149536158 0.00029
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) rs139706467 0.00029
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_021954.4(GJA3):c.*1449C>T rs867076363 0.00029
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_014290.3(TDRD7):c.-42G>C rs540892282 0.00027
NM_024513.4(FYCO1):c.*2757C>A rs186073318 0.00025
NM_001887.4(CRYBB1):c.-7G>A rs200292741 0.00021
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_024513.4(FYCO1):c.*810G>A rs778420399 0.00021
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro) rs142111893 0.00019
NM_018238.4(AGK):c.*1301C>T rs553433680 0.00019
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_004431.5(EPHA2):c.*845G>A rs181703453 0.00018
NM_012064.4(MIP):c.*969G>A rs543075454 0.00018
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_021954.4(GJA3):c.*2311A>C rs555846962 0.00017
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070 0.00016
NM_014290.3(TDRD7):c.1694C>T (p.Pro565Leu) rs148718632 0.00016
NM_021954.4(GJA3):c.-41G>T rs886050024 0.00016
NM_021954.4(GJA3):c.852C>G (p.Ala284=) rs557677250 0.00016
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_153427.3(PITX2):c.-40G>A rs942688607 0.00016
NM_014290.3(TDRD7):c.3129T>C (p.His1043=) rs371279564 0.00015
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00015
NM_001161748.2(LIM2):c.334G>A (p.Val112Ile) rs142030761 0.00014
NM_004076.5(CRYBB3):c.-61C>T rs113563958 0.00014
NM_021954.4(GJA3):c.*1176A>C rs886050014 0.00014
NM_021954.4(GJA3):c.*2931A>G rs544693111 0.00014
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_004076.5(CRYBB3):c.25G>A (p.Glu9Lys) rs367616021 0.00013
NM_012064.4(MIP):c.*601G>A rs565229690 0.00013
NM_014290.3(TDRD7):c.2257A>G (p.Ile753Val) rs201436824 0.00013
NM_014290.3(TDRD7):c.2267G>A (p.Arg756Gln) rs183885850 0.00013
NM_014290.3(TDRD7):c.854C>T (p.Thr285Met) rs141457141 0.00013
NM_018238.4(AGK):c.*1127C>A rs886062027 0.00013
NM_024513.4(FYCO1):c.3151-12G>A rs372806650 0.00013
NM_004431.5(EPHA2):c.1712C>T (p.Pro571Leu) rs376402047 0.00012
NM_001161748.2(LIM2):c.131G>A (p.Arg44Gln) rs142234866 0.00011
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp) rs376115617 0.00011
NM_014290.3(TDRD7):c.2080-15A>G rs372316746 0.00011
NM_021954.4(GJA3):c.*2107T>A rs553286295 0.00011
NM_021954.4(GJA3):c.*3509C>G rs966696205 0.00011
NM_018238.4(AGK):c.*1237G>A rs202211411 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_000325.6(PITX2):c.*176A>T rs567517676 0.00009
NM_001538.4(HSF4):c.-198C>T rs893014096 0.00009
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_012064.4(MIP):c.*674G>A rs150155933 0.00009
NM_014290.3(TDRD7):c.1583C>T (p.Ala528Val) rs374337717 0.00009
NM_018238.4(AGK):c.-14-3T>C rs371437227 0.00009
NM_024513.4(FYCO1):c.*176C>T rs544729621 0.00009
NM_024513.4(FYCO1):c.*3527G>A rs756372595 0.00009
NM_000394.4(CRYAA):c.335G>A (p.Arg112His) rs200594555 0.00008
NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys) rs369609046 0.00008
NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp) rs139154341 0.00008
NM_001538.3(HSF4):c.*159T>C rs776129671 0.00008
NM_001887.4(CRYBB1):c.282C>T (p.Ile94=) rs372418411 0.00008
NM_003571.4(BFSP2):c.*132G>C rs578233592 0.00008
NM_014290.3(TDRD7):c.*220T>C rs1006051819 0.00008
NM_014290.3(TDRD7):c.579G>A (p.Ala193=) rs75516981 0.00008
NM_018238.4(AGK):c.*1126T>A rs1269074943 0.00008
NM_021954.4(GJA3):c.*2695C>T rs774238106 0.00008
NM_024513.4(FYCO1):c.*3278G>A rs546718807 0.00008
NM_024513.4(FYCO1):c.*988C>A rs912973615 0.00008
NM_001161748.2(LIM2):c.*245A>G rs758862764 0.00007
NM_012064.4(MIP):c.*1495T>C rs769951572 0.00007
NM_014290.3(TDRD7):c.987G>A (p.Pro329=) rs761704668 0.00007
NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp) rs768152063 0.00007
NM_024513.4(FYCO1):c.4251+11G>A rs777307225 0.00007
NM_000325.6(PITX2):c.*440C>T rs1301785358 0.00006
NM_001161748.2(LIM2):c.108C>T (p.Ser36=) rs760441995 0.00006
NM_001887.4(CRYBB1):c.-6G>A rs200241940 0.00006
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) rs200002097 0.00006
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818 0.00006
NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile) rs568736295 0.00006
NM_014290.3(TDRD7):c.2039G>T (p.Ser680Ile) rs140111735 0.00006
NM_014290.3(TDRD7):c.2251A>C (p.Arg751=) rs1171168935 0.00006
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) rs766975987 0.00006
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_153427.2(PITX2):c.-1421G>C rs758425186 0.00006
NM_153427.2(PITX2):c.-501T>G rs915152120 0.00006
NM_001161748.2(LIM2):c.175+113G>C rs754470902 0.00005
NM_001161748.2(LIM2):c.40G>A (p.Val14Met) rs202081431 0.00005
NM_001374675.1(HSF4):c.*148T>G rs985380596 0.00005
NM_004431.5(EPHA2):c.*625G>A rs886045502 0.00005
NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser) rs760434926 0.00005
NM_012064.4(MIP):c.*132del rs886049691 0.00005
NM_014290.3(TDRD7):c.1892A>G (p.Asn631Ser) rs376812712 0.00005
NM_014290.3(TDRD7):c.199T>C (p.Ser67Pro) rs148039648 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_021954.4(GJA3):c.*1931G>C rs1244045985 0.00005
NM_021954.4(GJA3):c.*532A>G rs1169670475 0.00005
NM_024513.4(FYCO1):c.*1270T>C rs1296033449 0.00005
NM_024513.4(FYCO1):c.*2889C>A rs886058553 0.00005
NM_153427.2(PITX2):c.-270A>G rs1163979542 0.00005
NM_001161748.2(LIM2):c.248T>C (p.Ile83Thr) rs773568535 0.00004
NM_001887.4(CRYBB1):c.*67C>G rs144489412 0.00004
NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn) rs886058007 0.00004
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=) rs147906885 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys) rs755475309 0.00004
NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn) rs200541087 0.00004
NM_005267.5(GJA8):c.1096G>A (p.Val366Met) rs782056871 0.00004
NM_014290.3(TDRD7):c.1950C>T (p.Asp650=) rs769740908 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_021954.4(GJA3):c.*101G>A rs886050019 0.00004
NM_021954.4(GJA3):c.*1365G>A rs1032039343 0.00004
NM_021954.4(GJA3):c.*1841C>T rs886050011 0.00004
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_153427.2(PITX2):c.-1092G>A rs754809224 0.00004
NM_153427.2(PITX2):c.-920C>T rs779178803 0.00004
NM_000325.6(PITX2):c.*107A>C rs752553102 0.00003
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_000394.4(CRYAA):c.*333G>A rs886057108 0.00003
NM_000394.4(CRYAA):c.*376G>C rs886057109 0.00003
NM_000394.4(CRYAA):c.*398G>A rs886057110 0.00003
NM_000394.4(CRYAA):c.245C>T (p.Pro82Leu) rs200183640 0.00003
NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp) rs143992484 0.00003
NM_000394.4(CRYAA):c.481G>A (p.Val161Met) rs757584843 0.00003
NM_001161748.2(LIM2):c.175+28G>A rs199913969 0.00003
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=) rs886057291 0.00003
NM_004431.5(EPHA2):c.*790C>T rs371642899 0.00003
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) rs758978165 0.00003
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) rs750878968 0.00003
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp) rs373953344 0.00003
NM_004431.5(EPHA2):c.2397C>T (p.Asp799=) rs199875761 0.00003
NM_004431.5(EPHA2):c.2697C>T (p.Ser899=) rs749180343 0.00003
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_006891.4(CRYGD):c.-33A>G rs1044458149 0.00003
NM_012064.4(MIP):c.*136T>G rs1481521864 0.00003
NM_012064.4(MIP):c.*542C>T rs1400800798 0.00003
NM_012064.4(MIP):c.*955G>A rs1043213686 0.00003
NM_014290.3(TDRD7):c.2390A>G (p.Asn797Ser) rs747436777 0.00003
NM_014290.3(TDRD7):c.2679G>A (p.Thr893=) rs144693621 0.00003
NM_014290.3(TDRD7):c.54T>C (p.His18=) rs749676206 0.00003
NM_014290.3(TDRD7):c.700A>G (p.Met234Val) rs758372213 0.00003
NM_018238.4(AGK):c.*241A>G rs914935906 0.00003
NM_021954.4(GJA3):c.*1232T>C rs886050013 0.00003
NM_021954.4(GJA3):c.*3108C>T rs886050006 0.00003
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_000325.6(PITX2):c.*572T>C rs886059003 0.00002
NM_000394.4(CRYAA):c.375C>A (p.Asp125Glu) rs886057104 0.00002
NM_001161748.2(LIM2):c.-41G>A rs539594698 0.00002
NM_001161748.2(LIM2):c.24C>T (p.Gly8=) rs147551022 0.00002
NM_001374675.1(HSF4):c.1325-1G>T rs142731757 0.00002
NM_001374675.1(HSF4):c.741G>A (p.Glu247=) rs373435397 0.00002
NM_001538.3(HSF4):c.-874G>C rs936318443 0.00002
NM_001538.4(HSF4):c.-448A>G rs886052213 0.00002
NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys) rs374800624 0.00002
NM_001887.4(CRYBB1):c.357C>T (p.Gly119=) rs763685652 0.00002
NM_003571.4(BFSP2):c.396G>A (p.Leu132=) rs373365813 0.00002
NM_004431.5(EPHA2):c.*624C>T rs886045503 0.00002
NM_004431.5(EPHA2):c.1421G>A (p.Arg474His) rs988452109 0.00002
NM_004431.5(EPHA2):c.303T>C (p.Thr101=) rs779193586 0.00002
NM_004431.5(EPHA2):c.962C>T (p.Ala321Val) rs372094298 0.00002
NM_005267.5(GJA8):c.58G>A (p.Val20Ile) rs782298787 0.00002
NM_012064.4(MIP):c.*793C>A rs891386760 0.00002
NM_012064.4(MIP):c.424G>A (p.Val142Met) rs966166555 0.00002
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) rs111320552 0.00002
NM_014290.3(TDRD7):c.2001C>G (p.Leu667=) rs764337688 0.00002
NM_014290.3(TDRD7):c.2285T>C (p.Ile762Thr) rs746282969 0.00002
NM_014290.3(TDRD7):c.2605A>G (p.Met869Val) rs757817371 0.00002
NM_018238.4(AGK):c.*1319G>A rs535922151 0.00002
NM_018238.4(AGK):c.*758T>C rs1345762130 0.00002
NM_018238.4(AGK):c.-36G>A rs570988835 0.00002
NM_021954.4(GJA3):c.*1535C>T rs1190517873 0.00002
NM_021954.4(GJA3):c.*2079A>G rs886050010 0.00002
NM_021954.4(GJA3):c.*3609G>A rs767584645 0.00002
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.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_153427.2(PITX2):c.-1422C>A rs1423855887 0.00002
NM_153427.3(PITX2):c.-53G>A rs1388707841 0.00002
NM_000325.6(PITX2):c.*611A>G rs886059002 0.00001
NM_000325.6(PITX2):c.282G>T (p.Arg94=) rs768386257 0.00001
NM_000325.6(PITX2):c.412-7C>T rs762349019 0.00001
NM_001161748.2(LIM2):c.*291T>C rs932195033 0.00001
NM_001161748.2(LIM2):c.-7+14G>A rs568064524 0.00001
NM_001161748.2(LIM2):c.174C>T (p.Ile58=) rs776429566 0.00001
NM_001161748.2(LIM2):c.175+30G>A rs376861251 0.00001
NM_001161748.2(LIM2):c.175+56C>T rs560748825 0.00001
NM_001161748.2(LIM2):c.333C>T (p.Phe111=) rs566729340 0.00001
NM_001161748.2(LIM2):c.357C>T (p.Tyr119=) rs761154589 0.00001
NM_001161748.2(LIM2):c.500G>A (p.Arg167Gln) rs191407731 0.00001
NM_001289808.2(CRYAB):c.*60G>A rs540926728 0.00001
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001374675.1(HSF4):c.203T>C (p.Met68Thr) rs751405773 0.00001
NM_001374675.1(HSF4):c.401A>T (p.Glu134Val) rs368518618 0.00001
NM_001538.3(HSF4):c.-759A>G rs777343855 0.00001
NM_001538.3(HSF4):c.-833C>T rs1332713508 0.00001
NM_001887.4(CRYBB1):c.294G>A (p.Ala98=) rs760235124 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu) rs886057326 0.00001
NM_001887.4(CRYBB1):c.576-3C>A rs142497666 0.00001
NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser) rs762942964 0.00001
NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro) rs886058011 0.00001
NM_004076.5(CRYBB3):c.*143C>T rs886057294 0.00001
NM_004076.5(CRYBB3):c.328-8G>A rs756648232 0.00001
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752 0.00001
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys) rs375275387 0.00001
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300 0.00001
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln) rs200791666 0.00001
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp) rs752618205 0.00001
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=) rs373954142 0.00001
NM_004431.5(EPHA2):c.*273G>A rs1208362952 0.00001
NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg) rs1253625963 0.00001
NM_004431.5(EPHA2):c.1572C>T (p.Phe524=) rs763210348 0.00001
NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu) rs548968171 0.00001
NM_004431.5(EPHA2):c.441C>T (p.Pro147=) rs778278534 0.00001
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) rs759687964 0.00001
NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys) rs368758045 0.00001
NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) rs782584748 0.00001
NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu) rs1453803597 0.00001
NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro) rs150041151 0.00001
NM_005267.5(GJA8):c.1296C>T (p.Thr432=) rs782581406 0.00001
NM_005267.5(GJA8):c.665T>C (p.Met222Thr) rs782579752 0.00001
NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly) rs886055527 0.00001
NM_012064.4(MIP):c.*661C>T rs1470004718 0.00001
NM_012064.4(MIP):c.361-10C>T rs886049693 0.00001
NM_014290.3(TDRD7):c.1308G>A (p.Gln436=) rs777608846 0.00001
NM_014290.3(TDRD7):c.1629+11T>C rs757235995 0.00001
NM_014290.3(TDRD7):c.223A>G (p.Met75Val) rs769552442 0.00001
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) rs201216195 0.00001
NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln) rs758400042 0.00001
NM_014290.3(TDRD7):c.582C>A (p.Ser194=) rs772250609 0.00001
NM_014290.3(TDRD7):c.637+13A>G rs370507991 0.00001
NM_014290.3(TDRD7):c.718C>T (p.Arg240Cys) rs199787418 0.00001
NM_018238.4(AGK):c.*1067T>G rs1797627785 0.00001
NM_018238.4(AGK):c.*125C>T rs1211083355 0.00001
NM_018238.4(AGK):c.*265G>A rs886062022 0.00001
NM_018238.4(AGK):c.*662A>G rs760797830 0.00001
NM_018238.4(AGK):c.*97G>T rs1474393370 0.00001
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.637T>C (p.Ser213Pro) rs886062019 0.00001
NM_018238.4(AGK):c.863C>T (p.Ala288Val) rs763068104 0.00001
NM_021954.4(GJA3):c.*2340A>G rs1008861631 0.00001
NM_021954.4(GJA3):c.*3210A>G rs779184721 0.00001
NM_021954.4(GJA3):c.*647G>A rs549434985 0.00001
NM_021954.4(GJA3):c.*691G>A rs560674293 0.00001
NM_021954.4(GJA3):c.-98G>A rs935261635 0.00001
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu) rs886050020 0.00001
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp) rs1958811300 0.00001
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg) rs1477019809 0.00001
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln) rs753251437 0.00001
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly) rs886050023 0.00001
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_153427.2(PITX2):c.-1411C>T rs1256005721 0.00001
NM_153427.2(PITX2):c.-1491G>A rs888167422 0.00001
NM_153427.2(PITX2):c.-483C>T rs1729689311 0.00001
NM_153427.2(PITX2):c.-966A>G rs1049702206 0.00001
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A rs1728830475
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*373GTT[1] rs886059004
NM_000325.6(PITX2):c.*696A>C rs1728803615
NM_000325.6(PITX2):c.412-11del rs886059007
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) rs746908680
NM_000394.4(CRYAA):c.*156T>G rs553059975
NM_000394.4(CRYAA):c.*193G>A rs886057106
NM_000394.4(CRYAA):c.*253C>T rs886057107
NM_000394.4(CRYAA):c.*380G>A rs370015697
NM_000394.4(CRYAA):c.-30C>G rs1985729237
NM_000394.4(CRYAA):c.269A>C (p.Gln90Pro) rs886057103
NM_000394.4(CRYAA):c.349C>T (p.Arg117Cys) rs760958782
NM_000394.4(CRYAA):c.488G>A (p.Arg163Gln) rs886057105
NM_001161748.2(LIM2):c.*218C>G rs886054600
NM_001161748.2(LIM2):c.*58G>A rs569373539
NM_001161748.2(LIM2):c.-27C>A rs113926789
NM_001161748.2(LIM2):c.-29C>G rs886054601
NM_001161748.2(LIM2):c.100T>A (p.Ser34Thr) rs76269472
NM_001161748.2(LIM2):c.141G>C (p.Leu47=) rs1987093521
NM_001161748.2(LIM2):c.337G>A (p.Val113Met) rs73934370
NM_001161748.2(LIM2):c.337G>C (p.Val113Leu) rs73934370
NM_001161748.2(LIM2):c.460+9G>A rs1568480003
NM_001289808.2(CRYAB):c.*107A>G rs886047686
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) rs1555165546
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001374675.1(HSF4):c.*30del rs756298250
NM_001374675.1(HSF4):c.104A>G (p.His35Arg) rs2031129932
NM_001374675.1(HSF4):c.1075C>A (p.Pro359Thr) rs886052216
NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly) rs886052215
NM_001374675.1(HSF4):c.594G>T (p.Ala198=) rs763541172
NM_001538.3(HSF4):c.*158_*159dupTT rs3215366
NM_001538.4(HSF4):c.-354C>A rs886052214
NM_001887.4(CRYBB1):c.-58C>T rs886057327
NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr) rs1929353737
NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter) rs762814574
NM_001887.4(CRYBB1):c.275G>A (p.Arg92His) rs750427170
NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu) rs144372140
NM_001887.4(CRYBB1):c.300-9T>G rs1929039318
NM_001887.4(CRYBB1):c.37G>A (p.Val13Met) rs747901309
NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly) rs148083686
NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu) rs764907340
NM_001887.4(CRYBB1):c.63C>A (p.Thr21=) rs1371584623
NM_003571.4(BFSP2):c.*225G>A rs2074202598
NM_003571.4(BFSP2):c.*226C>A rs574253958
NM_003571.4(BFSP2):c.1244+8T>C rs2074175378
NM_003571.4(BFSP2):c.251dup (p.Leu85fs) rs886058008
NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala) rs886058009
NM_003571.4(BFSP2):c.567A>G (p.Lys189=) rs886058010
NM_003571.4(BFSP2):c.578A>G (p.Glu193Gly) rs2073924367
NM_003571.4(BFSP2):c.630_631del (p.Tyr210_Lys211delinsTer) rs768745697
NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys) rs886058012
NM_003571.4(BFSP2):c.918C>G (p.Ser306=) rs1157387539
NM_004076.5(CRYBB3):c.*103C>T rs886057293
NM_004076.5(CRYBB3):c.-57C>G rs777375397
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser) rs780319207
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=) rs886057292
NM_004076.5(CRYBB3):c.194+1G>T rs200444299
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His) rs183587921
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu) rs183587921
NM_004431.5(EPHA2):c.*224G>T rs886045504
NM_004431.5(EPHA2):c.*543C>T rs2024433310
NM_004431.5(EPHA2):c.-81G>T rs748513356
NM_004431.5(EPHA2):c.124G>A (p.Gly42Ser) rs886045506
NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe) rs993473436
NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys) rs1380993138
NM_004431.5(EPHA2):c.1701C>T (p.Ala567=) rs2024630377
NM_004431.5(EPHA2):c.2328C>A (p.Gly776=) rs757876769
NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter) rs143590250
NM_005267.5(GJA8):c.-11-4T>G rs1651864498
NM_005267.5(GJA8):c.-43A>G rs1651656949
NM_005267.5(GJA8):c.285C>T (p.His95=) rs886045253
NM_005267.5(GJA8):c.300C>T (p.Val100=) rs886045254
NM_005267.5(GJA8):c.670T>C (p.Leu224=) rs782211254
NM_005267.5(GJA8):c.678C>A (p.His226Gln) rs201476382
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) rs886045255
NM_006891.3(CRYGD):c.-80A>C rs886055528
NM_006891.4(CRYGD):c.252C>T (p.His84=) rs775032143
NM_006891.4(CRYGD):c.333T>C (p.Cys111=) rs933732267
NM_012064.4(MIP):c.*1103C>T rs886049689
NM_012064.4(MIP):c.*1237_*1238dup rs111463603
NM_012064.4(MIP):c.*1262C>G rs1868534260
NM_012064.4(MIP):c.*148dup rs35639464
NM_012064.4(MIP):c.*1777dup rs886049688
NM_012064.4(MIP):c.*342C>T rs886049690
NM_012064.4(MIP):c.*957G>A rs924408819
NM_012064.4(MIP):c.-26C>A rs1172594016
NM_012064.4(MIP):c.493G>A (p.Gly165Ser) rs886049692
NM_014290.3(TDRD7):c.-120C>G rs942258191
NM_014290.3(TDRD7):c.-122T>C rs886063212
NM_014290.3(TDRD7):c.-147G>T rs886063211
NM_014290.3(TDRD7):c.-6-3T>C rs747079212
NM_014290.3(TDRD7):c.1353C>T (p.Asp451=) rs146047308
NM_014290.3(TDRD7):c.1445A>G (p.Tyr482Cys) rs886063213
NM_014290.3(TDRD7):c.1821A>T (p.Glu607Asp) rs1169706990
NM_014290.3(TDRD7):c.207+12A>C rs763703339
NM_014290.3(TDRD7):c.2381C>A (p.Ser794Tyr) rs1829105037
NM_014290.3(TDRD7):c.2491A>G (p.Ser831Gly) rs886063214
NM_014290.3(TDRD7):c.3004A>G (p.Ile1002Val) rs202206922
NM_014290.3(TDRD7):c.3129T>A (p.His1043Gln) rs371279564
NM_014290.3(TDRD7):c.416A>G (p.Asn139Ser) rs1317477843
NM_014290.3(TDRD7):c.725A>G (p.Lys242Arg) rs1036293350
NM_014290.3(TDRD7):c.838T>C (p.Trp280Arg) rs201246147
NM_018238.4(AGK):c.*1006T>C rs1387554008
NM_018238.4(AGK):c.*231C>T rs1797606303
NM_018238.4(AGK):c.*364C>G rs368718308
NM_018238.4(AGK):c.*365G>A rs886062024
NM_018238.4(AGK):c.*754G>A rs1797619409
NM_018238.4(AGK):c.*967T>C rs886062026
NM_018238.4(AGK):c.1098C>T (p.Leu366=) rs369042931
NM_018238.4(AGK):c.217A>G (p.Lys73Glu) rs1796233762
NM_018238.4(AGK):c.355A>G (p.Ile119Val) rs180770509
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) rs886062020
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.976-9C>T rs746375297
NM_021954.4(GJA3):c.*1239C>G rs575890873
NM_021954.4(GJA3):c.*1495G>C rs1324857690
NM_021954.4(GJA3):c.*1760G>A rs183550581
NM_021954.4(GJA3):c.*1941C>G rs960605395
NM_021954.4(GJA3):c.*1965C>T rs1958798103
NM_021954.4(GJA3):c.*198T>C rs886050018
NM_021954.4(GJA3):c.*201G>C rs1025195589
NM_021954.4(GJA3):c.*2086G>T rs1958797398
NM_021954.4(GJA3):c.*2363A>G rs1958795891
NM_021954.4(GJA3):c.*2829A>T rs886050009
NM_021954.4(GJA3):c.*2923A>G rs886050008
NM_021954.4(GJA3):c.*3099C>A rs886050007
NM_021954.4(GJA3):c.*3182T>G rs886050005
NM_021954.4(GJA3):c.*3389G>A rs886050004
NM_021954.4(GJA3):c.*740G>C rs141947045
NM_021954.4(GJA3):c.*744A>G rs755473152
NM_021954.4(GJA3):c.*846G>A rs886050015
NM_021954.4(GJA3):c.*846G>C rs886050015
NM_021954.4(GJA3):c.1065C>G (p.Val355=) rs989998887
NM_021954.4(GJA3):c.1089G>A (p.Ala363=) rs1958811917
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn) rs1958811054
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) rs1047204525
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg) rs1958809965
NM_021954.4(GJA3):c.383A>T (p.Asp128Val) rs1440873571
NM_021954.4(GJA3):c.720G>A (p.Pro240=) rs746223535
NM_021954.4(GJA3):c.78G>A (p.Leu26=) rs1172500719
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser) rs886050022
NM_021954.4(GJA3):c.885G>C (p.Ala295=) rs886050021
NM_021954.4(GJA3):c.902C>T (p.Ala301Val) rs1460869929
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg) rs377190812
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.*2275G>A rs773693634
NM_024513.4(FYCO1):c.*2307C>G rs886058555
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
NM_153427.2(PITX2):c.-1078C>A rs1309981396
NM_153427.2(PITX2):c.-1209C>T rs563409386
NM_153427.2(PITX2):c.-245G>A rs1729676876
NM_153427.2(PITX2):c.-300A>T rs1188264847
NM_153427.2(PITX2):c.-429C>G rs985015612
NM_153427.2(PITX2):c.-515C>T rs904945318
NM_153427.2(PITX2):c.-670C>T rs1017565030

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