ClinVar Miner

List of variants reported as benign for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 505
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HGVS dbSNP gnomAD frequency
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_021954.4(GJA3):c.*2426C>A rs6490521 0.98063
NM_021954.4(GJA3):c.*618G>A rs9509051 0.98010
NM_012064.4(MIP):c.*94T>G rs2935008 0.97210
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) rs968566 0.96584
NM_021954.4(GJA3):c.*2593A>T rs6490520 0.95210
NM_004431.5(EPHA2):c.*297G>A rs1803527 0.94295
NM_003571.4(BFSP2):c.572+160A>G rs7644197 0.93297
NM_006891.4(CRYGD):c.*12T>C rs2305429 0.92175
NM_001886.3(CRYBA4):c.171T>C (p.Phe57=) rs5761637 0.88601
NM_006891.4(CRYGD):c.285A>G (p.Arg95=) rs2305430 0.87984
NM_024513.4(FYCO1):c.*455A>G rs6441934 0.86048
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) rs4683158 0.84476
NM_012064.4(MIP):c.*505T>C rs774053 0.83411
NM_024513.4(FYCO1):c.*3742T>A rs7130 0.83012
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) rs1463680 0.78251
NM_024513.4(FYCO1):c.*505A>G rs7652331 0.73831
NM_002340.6(LSS):c.1924T>G (p.Leu642Val) rs2254524 0.72214
NM_000496.3(CRYBB2):c.449+9G>A rs4049505 0.71163
NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu) rs796287 0.69716
NM_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801 0.68219
NM_005029.4(PITX3):c.285C>T (p.Ile95=) rs2281983 0.66644
NM_003571.4(BFSP2):c.1244+44A>G rs7628499 0.61687
NM_000394.4(CRYAA):c.6C>T (p.Asp2=) rs872331 0.60786
NM_004076.5(CRYBB3):c.-20-13T>C rs2269672 0.60613
NM_006891.4(CRYGD):c.51T>C (p.Tyr17=) rs2242074 0.59825
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp) rs9608378 0.58489
NM_001886.3(CRYBA4):c.159-20A>G rs4276 0.57999
NM_002340.6(LSS):c.784-6C>T rs11701729 0.56553
NM_003571.4(BFSP2):c.603= (p.Ala201=) rs2276737 0.54090
NM_002340.6(LSS):c.551-6G>C rs2277826 0.53664
NM_014290.3(TDRD7):c.33A>G (p.Leu11=) rs1381532 0.53541
NM_014290.3(TDRD7):c.449T>C (p.Val150Ala) rs2045732 0.53529
NM_015221.4(DNMBP):c.3744A>G (p.Pro1248=) rs2490763 0.52270
NM_015221.4(DNMBP):c.3156+7A>G rs3758394 0.52059
NM_001195.5(BFSP1):c.957-83T>C rs6044850 0.51642
NM_015221.4(DNMBP):c.4320C>T (p.Ser1440=) rs2255901 0.50729
NM_005210.4(CRYGB):c.192T>C (p.Pro64=) rs2854723 0.48090
NM_015221.4(DNMBP):c.1332C>T (p.Pro444=) rs2862923 0.47476
NM_001195.5(BFSP1):c.735+121G>T rs1016211 0.46631
NM_015073.3(SIPA1L3):c.5203-23T>C rs10419131 0.46560
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100 0.46235
NM_003571.4(BFSP2):c.603G>A (p.Ala201=) rs2276737 0.45910
NM_024513.4(FYCO1):c.3438-29C>T rs1532071 0.45750
NM_003571.4(BFSP2):c.1023+31T>C rs2737717 0.43165
NM_002340.6(LSS):c.864G>C (p.Pro288=) rs9980968 0.38541
NM_024513.4(FYCO1):c.*2406G>A rs3796373 0.38430
NM_004431.5(EPHA2):c.987C>T (p.Pro329=) rs2230597 0.37785
NM_012064.4(MIP):c.*1171C>A rs2371455 0.37529
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_003380.5(VIM):c.-22G>C rs3758410 0.34400
NM_024513.4(FYCO1):c.*662G>C rs3733103 0.34001
NM_012064.4(MIP):c.*715G>A rs3809125 0.32150
NM_015221.4(DNMBP):c.2883C>T (p.Asn961=) rs7919323 0.31410
NM_015221.4(DNMBP):c.4239T>G (p.Cys1413Trp) rs11190305 0.30773
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_024513.4(FYCO1):c.*2695A>T rs61519998 0.28502
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=) rs6136118 0.27904
NM_004431.5(EPHA2):c.573G>A (p.Leu191=) rs6678616 0.27639
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_001195.5(BFSP1):c.1926C>T (p.Thr642=) rs6080717 0.26382
NM_004431.5(EPHA2):c.570G>A (p.Ala190=) rs6678618 0.26138
NM_021954.4(GJA3):c.*319G>T rs1886176 0.24473
NM_021954.4(GJA3):c.*2602T>C rs6490519 0.24235
NM_000496.3(CRYBB2):c.483G>A (p.Gly161=) rs8140949 0.24115
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=) rs3754334 0.23636
NM_005208.5(CRYBA1):c.456C>T (p.Gly152=) rs1047790 0.22069
NM_021954.4(GJA3):c.*1257G>A rs12427963 0.21768
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser) rs6080719 0.20403
NM_004431.5(EPHA2):c.1738+16C>T rs6669624 0.19542
NM_021954.4(GJA3):c.*2231A>G rs59606061 0.18912
NM_021954.4(GJA3):c.*2469T>C rs60759737 0.18797
NM_021954.4(GJA3):c.*243G>A rs4769953 0.18639
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_001267052.2(UNC45B):c.808+39G>A rs11869662 0.15718
NM_004431.5(EPHA2):c.1983C>T (p.Leu661=) rs10907223 0.15604
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) rs3796376 0.15512
NM_001491.3(GCNT2):c.216C>T (p.Cys72=) rs2230906 0.10090
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) rs34147726 0.09577
NM_000394.4(CRYAA):c.*507C>G rs79614970 0.09429
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_014290.3(TDRD7):c.588A>G (p.Gln196=) rs7853578 0.07327
NM_000394.4(CRYAA):c.*93T>G rs112855370 0.07095
NM_024513.4(FYCO1):c.*308A>G rs2291471 0.07001
NM_001886.3(CRYBA4):c.300+3A>G rs56117601 0.06378
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630 0.05424
NM_001195.5(BFSP1):c.804C>T (p.Asn268=) rs11537702 0.05390
NM_003380.5(VIM):c.813C>T (p.Asp271=) rs4903 0.05252
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_001538.3(HSF4):c.-944G>A rs61735433 0.04927
NM_001374675.1(HSF4):c.123+9C>T rs115335849 0.04892
NM_012064.4(MIP):c.*615A>G rs17118657 0.04797
NM_005267.5(GJA8):c.804C>T (p.Leu268=) rs3766503 0.04698
NM_014290.3(TDRD7):c.1923G>A (p.Lys641=) rs41281938 0.04583
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04579
NM_005208.5(CRYBA1):c.215+16C>T rs72819448 0.04171
NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp) rs79087781 0.04138
NM_004431.5(EPHA2):c.2034A>G (p.Leu678=) rs2230598 0.03581
NM_021954.4(GJA3):c.543C>T (p.Cys181=) rs74607195 0.03391
NM_001886.3(CRYBA4):c.444-18G>A rs75205052 0.03174
NM_000394.4(CRYAA):c.444T>A (p.Thr148=) rs61735857 0.03116
NM_018238.4(AGK):c.*1175C>T rs71545336 0.02792
NM_021954.4(GJA3):c.*581A>G rs61950897 0.02766
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) rs41289618 0.02650
NM_014290.3(TDRD7):c.563+14G>A rs13290426 0.02374
NM_024513.4(FYCO1):c.*3439A>T rs113723273 0.02359
NM_021954.4(GJA3):c.*3166C>T rs74035923 0.02351
NM_024513.4(FYCO1):c.*2060C>A rs75347427 0.02289
NM_014290.3(TDRD7):c.207+18C>T rs10817568 0.02115
NM_012064.4(MIP):c.319G>A (p.Val107Ile) rs74641138 0.01986
NM_018238.4(AGK):c.*141C>T rs6943245 0.01947
NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu) rs142631461 0.01935
NM_004431.5(EPHA2):c.*443T>C rs113810531 0.01920
NM_004431.5(EPHA2):c.*166G>A rs11543935 0.01917
NM_004431.5(EPHA2):c.*714G>A rs78569898 0.01916
NM_004431.5(EPHA2):c.*742T>A rs111512184 0.01913
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=) rs35586310 0.01913
NM_024513.4(FYCO1):c.*191G>A rs111480321 0.01912
NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr) rs34021505 0.01910
NM_024513.4(FYCO1):c.845G>A (p.Arg282His) rs9875356 0.01862
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His) rs35903225 0.01759
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) rs36014492 0.01745
NM_001886.3(CRYBA4):c.106G>A (p.Val36Met) rs35520672 0.01724
NM_001491.3(GCNT2):c.330G>A (p.Arg110=) rs35537333 0.01705
NM_004431.5(EPHA2):c.824-11G>A rs2291804 0.01705
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549 0.01659
NM_012064.4(MIP):c.-10C>A rs61759527 0.01631
NM_021954.4(GJA3):c.*509A>G rs141040647 0.01615
NM_021954.4(GJA3):c.*1083T>C rs144491437 0.01612
NM_004431.5(EPHA2):c.2352C>T (p.Thr784=) rs112285834 0.01597
NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser) rs16986560 0.01554
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu) rs16999317 0.01485
NM_018238.4(AGK):c.*320G>A rs3735282 0.01469
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_001161748.2(LIM2):c.231C>T (p.Ser77=) rs8111243 0.01252
NM_000394.4(CRYAA):c.327C>T (p.Tyr109=) rs79100529 0.01190
NM_004431.5(EPHA2):c.1941G>T (p.Thr647=) rs56043737 0.01185
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_003380.5(VIM):c.879C>G (p.Ser293=) rs11254467 0.01153
NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp) rs139124891 0.01147
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01145
NM_024513.4(FYCO1):c.*466C>T rs73830632 0.01121
NM_000394.4(CRYAA):c.246G>A (p.Pro82=) rs61735856 0.01115
NM_021954.4(GJA3):c.*2864T>C rs140291136 0.01090
NM_003571.4(BFSP2):c.369C>T (p.His123=) rs34163197 0.01054
NM_003571.4(BFSP2):c.162C>T (p.Pro54=) rs112142146 0.01053
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.01025
NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln) rs200899362 0.01003
NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala) rs143850362 0.00985
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620 0.00981
NM_018238.4(AGK):c.*1210A>T rs184938991 0.00966
NM_014290.3(TDRD7):c.912G>A (p.Lys304=) rs78579695 0.00950
NM_012064.4(MIP):c.*762_*763del rs3840772 0.00934
NM_021954.4(GJA3):c.*1997G>A rs58325462 0.00903
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) rs34068905 0.00893
NM_014290.3(TDRD7):c.1869A>G (p.Ser623=) rs115297535 0.00890
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_000394.4(CRYAA):c.54C>T (p.Tyr18=) rs61729442 0.00859
NM_024513.4(FYCO1):c.*1056C>T rs114644287 0.00847
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
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_006891.4(CRYGD):c.130A>G (p.Met44Val) rs61731517 0.00834
NM_003571.4(BFSP2):c.892-17G>C rs17366213 0.00831
NM_001161748.2(LIM2):c.175+11C>T rs73933350 0.00824
NM_024513.4(FYCO1):c.*1419C>T rs116230454 0.00793
NM_176812.5(CHMP4B):c.558C>T (p.Pro186=) rs79766928 0.00784
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met) rs61731097 0.00776
NM_014290.3(TDRD7):c.1800T>C (p.Cys600=) rs12552100 0.00769
NM_004431.5(EPHA2):c.648C>T (p.Ala216=) rs34753465 0.00766
NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp) rs76323117 0.00746
NM_004431.5(EPHA2):c.1864+12C>T rs183236745 0.00718
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=) rs35318346 0.00670
NM_014290.3(TDRD7):c.2489G>A (p.Arg830His) rs78820996 0.00648
NM_021954.4(GJA3):c.375A>G (p.Pro125=) rs111863858 0.00642
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser) rs75648279 0.00632
NM_001374675.1(HSF4):c.*89G>T rs11642409 0.00612
NM_004431.5(EPHA2):c.86-9C>T rs138164293 0.00608
NM_004431.5(EPHA2):c.695A>G (p.Asp232Gly) rs114498261 0.00582
NM_003380.5(VIM):c.1009-10C>T rs79719081 0.00570
NM_014290.3(TDRD7):c.207+19G>A rs16920147 0.00568
NM_012064.4(MIP):c.*407A>G rs72478920 0.00559
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=) rs55655135 0.00541
NM_021954.4(GJA3):c.*2416A>G rs138134157 0.00529
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) rs114548859 0.00520
NM_021954.4(GJA3):c.*358T>C rs186827757 0.00509
NM_004431.5(EPHA2):c.1512G>T (p.Leu504=) rs35676629 0.00491
NM_004431.5(EPHA2):c.2919G>A (p.Gly973=) rs114895977 0.00475
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612 0.00446
NM_004431.5(EPHA2):c.493G>A (p.Val165Met) rs150790360 0.00444
NM_001195.5(BFSP1):c.736-16G>A rs76806936 0.00427
NM_024513.4(FYCO1):c.*21C>T rs145828463 0.00422
NM_145649.5(GCNT2):c.926-34857G>A rs56106312 0.00419
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) rs137986696 0.00410
NM_000394.4(CRYAA):c.324C>T (p.Gly108=) rs113802426 0.00399
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.3212A>G (p.Gln1071Arg) rs142618914 0.00387
NM_021954.4(GJA3):c.*904G>T rs148572505 0.00384
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) rs6795530 0.00381
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) rs140002692 0.00363
NM_017541.4(CRYGS):c.24T>A (p.Ile8=) rs113031838 0.00359
NM_001886.3(CRYBA4):c.40-1G>C rs142090709 0.00358
NM_004431.5(EPHA2):c.1314G>A (p.Glu438=) rs55700006 0.00355
NM_018238.4(AGK):c.101+5C>T rs150421355 0.00346
NM_021954.4(GJA3):c.1086C>A (p.Leu362=) rs368180843 0.00339
NM_021954.4(GJA3):c.*223T>G rs78201355 0.00330
NM_004431.5(EPHA2):c.*355A>G rs140956748 0.00321
NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu) rs35484156 0.00309
NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val) rs201011907 0.00303
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln) rs149933083 0.00301
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) rs35937665 0.00299
NM_021954.4(GJA3):c.*1351C>T rs138516703 0.00295
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) rs149818737 0.00295
NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr) rs11543934 0.00292
NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn) rs115171763 0.00292
NM_001195.5(BFSP1):c.887C>T (p.Ala296Val) rs142996076 0.00285
NM_021954.4(GJA3):c.231C>T (p.Phe77=) rs143508620 0.00277
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_001886.3(CRYBA4):c.307C>T (p.Arg103Cys) rs149353652 0.00265
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916 0.00265
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) rs548358901 0.00264
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) rs116798205 0.00264
NM_006891.4(CRYGD):c.252+7A>G rs185860020 0.00261
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=) rs55869078 0.00255
NM_004431.5(EPHA2):c.507C>T (p.Ser169=) rs139064351 0.00254
NM_004431.5(EPHA2):c.*213C>T rs112600002 0.00253
NM_153427.2(PITX2):c.-362C>G rs181197472 0.00251
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_004431.5(EPHA2):c.1313-20C>T rs146418694 0.00240
NM_012064.4(MIP):c.*1104T>A rs72478921 0.00239
NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu) rs144800101 0.00236
NM_018238.4(AGK):c.518+18G>A rs192082201 0.00235
NM_012064.4(MIP):c.516C>T (p.His172=) rs36032520 0.00232
NM_153427.2(PITX2):c.-1024G>A rs181439547 0.00231
NM_153427.2(PITX2):c.-1111C>G rs187210297 0.00231
NM_001887.4(CRYBB1):c.432+15G>A rs181227194 0.00226
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_018238.4(AGK):c.297+18A>G rs138364626 0.00225
NM_012064.4(MIP):c.*491A>C rs137926387 0.00222
NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys) rs147206089 0.00220
NM_006891.4(CRYGD):c.376G>A (p.Val126Met) rs150318966 0.00220
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_012064.4(MIP):c.199G>A (p.Val67Ile) rs77163805 0.00215
NM_001195.5(BFSP1):c.762A>G (p.Lys254=) rs35042144 0.00210
NM_012064.4(MIP):c.*799A>G rs140453442 0.00210
NM_001887.4(CRYBB1):c.399T>C (p.Ser133=) rs34027527 0.00209
NM_004431.5(EPHA2):c.*668G>T rs146367469 0.00207
NM_001886.3(CRYBA4):c.324A>T (p.Thr108=) rs143137736 0.00206
NM_000496.3(CRYBB2):c.40T>A (p.Ser14Thr) rs117457580 0.00205
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_017541.4(CRYGS):c.294C>A (p.Ile98=) rs140421841 0.00198
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile) rs199742128 0.00196
NM_004431.5(EPHA2):c.1170C>T (p.His390=) rs113173342 0.00182
NM_001886.3(CRYBA4):c.216C>T (p.Gly72=) rs148454808 0.00179
NM_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NM_017541.4(CRYGS):c.306G>A (p.Gly102=) rs114186269 0.00176
NM_014290.3(TDRD7):c.2079+9G>A rs375910025 0.00169
NM_001491.3(GCNT2):c.630T>G (p.Gly210=) rs148372193 0.00167
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00165
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_001538.3(HSF4):c.-832G>A rs201963745 0.00162
NM_021954.4(GJA3):c.*2870C>T rs575352846 0.00160
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.*360G>A rs41269181 0.00155
NM_004431.5(EPHA2):c.489G>A (p.Leu163=) rs146626026 0.00153
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=) rs149080726 0.00152
NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys) rs184524046 0.00148
NM_001538.3(HSF4):c.-880G>C rs201429195 0.00143
NM_021954.4(GJA3):c.-60G>A rs533095023 0.00143
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile) rs145592908 0.00139
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_005208.5(CRYBA1):c.97-8C>T rs376499974 0.00134
NM_021954.4(GJA3):c.*47A>G rs75630774 0.00133
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg) rs201955819 0.00132
NM_014290.3(TDRD7):c.231C>T (p.Cys77=) rs143579801 0.00129
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) rs3733101 0.00123
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=) rs144393956 0.00119
NM_001886.3(CRYBA4):c.465G>A (p.Pro155=) rs117467748 0.00111
NM_003571.4(BFSP2):c.75G>A (p.Ala25=) rs146992682 0.00111
NM_003380.5(VIM):c.282C>T (p.Thr94=) rs144539901 0.00107
NM_001538.4(HSF4):c.-223C>T rs192479571 0.00105
NM_003380.5(VIM):c.1008+18A>G rs368836644 0.00103
NM_004431.5(EPHA2):c.2100G>A (p.Leu700=) rs141594918 0.00103
NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser) rs150798461 0.00099
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys) rs140697341 0.00086
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=) rs201532782 0.00083
NM_003571.4(BFSP2):c.366G>A (p.Val122=) rs139476224 0.00079
NM_024513.4(FYCO1):c.3944+18C>G rs144463828 0.00076
NM_021954.4(GJA3):c.*1957G>C rs142629563 0.00071
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_006891.4(CRYGD):c.63C>T (p.Ser21=) rs150961505 0.00069
NM_001161748.2(LIM2):c.57G>A (p.Leu19=) rs142517355 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_003571.4(BFSP2):c.246T>C (p.Ser82=) rs145934653 0.00067
NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met) rs55747232 0.00067
NM_001195.5(BFSP1):c.675G>A (p.Leu225=) rs140834233 0.00064
NM_005360.5(MAF):c.882G>A (p.Arg294=) rs140303158 0.00061
NM_004431.5(EPHA2):c.453C>T (p.Thr151=) rs139200871 0.00060
NM_004431.5(EPHA2):c.523C>T (p.Arg175Cys) rs147352564 0.00059
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_006891.4(CRYGD):c.-39C>T rs765407471 0.00051
NM_021954.4(GJA3):c.*2831A>G rs529957247 0.00049
NM_004431.5(EPHA2):c.*659T>A rs139754494 0.00046
NM_021954.4(GJA3):c.*491T>A rs563280044 0.00046
NM_005208.5(CRYBA1):c.75G>A (p.Pro25=) rs368469355 0.00044
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_005208.5(CRYBA1):c.555T>C (p.Cys185=) rs145678386 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_001374675.1(HSF4):c.63C>A (p.Leu21=) rs372135101 0.00041
NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys) rs145444931 0.00041
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) rs117543659 0.00041
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=) rs55740291 0.00039
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_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_001374675.1(HSF4):c.627-11C>T rs199856104 0.00034
NM_004431.5(EPHA2):c.1215C>T (p.His405=) rs142848257 0.00032
NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu) rs147971015 0.00032
NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu) rs185816798 0.00031
NM_006891.4(CRYGD):c.252+10T>A rs200111275 0.00031
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) rs770718484 0.00031
NM_021954.4(GJA3):c.261G>A (p.Thr87=) rs368890350 0.00031
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_006891.4(CRYGD):c.10-7C>G rs189582567 0.00029
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) rs779251021 0.00029
NM_024513.4(FYCO1):c.2622G>A (p.Gln874=) rs761900261 0.00029
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu) rs145026721 0.00027
NM_001374675.1(HSF4):c.*8C>T rs372224972 0.00026
NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn) rs200708134 0.00025
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) rs144342633 0.00025
NM_001538.3(HSF4):c.-622G>C rs200404151 0.00024
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val) rs147977279 0.00023
NM_004431.5(EPHA2):c.*510G>A rs144559615 0.00022
NM_012064.4(MIP):c.*32T>C rs185699444 0.00022
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_003571.4(BFSP2):c.720C>T (p.Asn240=) rs376911067 0.00019
NM_005267.5(GJA8):c.1157C>T (p.Pro386Leu) rs149146673 0.00019
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_001374675.1(HSF4):c.1476C>A (p.Pro492=) rs367756178 0.00016
NM_005267.5(GJA8):c.1248G>T (p.Leu416=) rs200369834 0.00016
NM_003571.4(BFSP2):c.*73C>T rs537979573 0.00014
NM_006891.4(CRYGD):c.9+15C>T rs368318772 0.00014
NM_014290.3(TDRD7):c.350-10A>G rs201833921 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_006891.4(CRYGD):c.-40C>T rs113618781 0.00013
NM_012064.4(MIP):c.378C>T (p.Ser126=) rs35033450 0.00013
NM_021954.4(GJA3):c.771C>A (p.Pro257=) rs553789027 0.00013
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_001538.3(HSF4):c.-772G>T rs201135322 0.00011
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) rs199755934 0.00011
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_006891.4(CRYGD):c.499C>T (p.Leu167=) rs774626835 0.00011
NM_014290.3(TDRD7):c.1629+7A>G rs151288166 0.00011
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=) rs140726562 0.00010
NM_001374675.1(HSF4):c.347G>A (p.Arg116His) rs79121622 0.00009
NM_001374675.1(HSF4):c.991G>A (p.Ala331Thr) rs199773890 0.00009
NM_001491.3(GCNT2):c.741G>A (p.Ala247=) rs200874437 0.00009
NM_001538.4(HSF4):c.-125C>T rs2272420 0.00009
NM_024513.4(FYCO1):c.2109G>A (p.Gln703=) rs766375149 0.00009
NM_153427.2(PITX2):c.-1385+12T>C rs140614517 0.00009
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) rs543711227 0.00007
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_004431.5(EPHA2):c.606C>T (p.Pro202=) rs201175373 0.00006
NM_005267.5(GJA8):c.1045A>G (p.Lys349Glu) rs782505421 0.00006
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542 0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_176812.5(CHMP4B):c.191-5C>T rs377095745 0.00006
NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys) rs144399466 0.00005
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln) rs80176276 0.00004
NM_005208.5(CRYBA1):c.97-20G>A rs201548192 0.00004
NM_005267.5(GJA8):c.356G>A (p.Gly119Glu) rs200587705 0.00004
NM_006891.4(CRYGD):c.189T>C (p.Tyr63=) rs200911604 0.00004
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly) rs560637463 0.00003
NM_001886.3(CRYBA4):c.40-5C>T rs751503329 0.00003
NM_004431.5(EPHA2):c.1608G>A (p.Ala536=) rs777962415 0.00003
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=) rs55660973 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_004431.5(EPHA2):c.1429-4A>G rs374403114 0.00002
NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=) rs367690473 0.00002
NM_001374675.1(HSF4):c.-23C>T rs760188385 0.00001
NM_001374675.1(HSF4):c.1315C>T (p.Pro439Ser) rs777720209 0.00001
NM_001374675.1(HSF4):c.1395C>A (p.Gly465=) rs28364624 0.00001
NM_003380.5(VIM):c.99G>T (p.Thr33=) rs531385322 0.00001
NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro) rs200208769 0.00001
NM_003571.4(BFSP2):c.285C>T (p.Thr95=) rs748115575 0.00001
NM_003571.4(BFSP2):c.730-7T>C rs75746794 0.00001
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=) rs774658304 0.00001
NM_004431.5(EPHA2):c.2030G>A (p.Arg677His) rs145962326 0.00001
NM_005210.4(CRYGB):c.312A>G (p.Ser104=) rs200750137 0.00001
NM_005210.4(CRYGB):c.513C>T (p.Val171=) rs541388467 0.00001
NM_006891.4(CRYGD):c.192C>G (p.Ala64=) rs766003243 0.00001
NM_006891.4(CRYGD):c.479C>T (p.Thr160Met) rs564197072 0.00001
NM_014290.3(TDRD7):c.605A>G (p.His202Arg) rs200603850 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NC_000002.12:g.208146167G>A rs2289917
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000394.4(CRYAA):c.*485G>A rs13048089
NM_000394.4(CRYAA):c.213C>T (p.Phe71=)
NM_000496.3(CRYBB2):c.273G>A (p.Thr91=)
NM_000496.3(CRYBB2):c.573C>T (p.Arg191=)
NM_001161748.2(LIM2):c.337G>A (p.Val113Met) rs73934370
NM_001161748.2(LIM2):c.460+19G>C
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe) rs886038419
NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.1749A>T (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.535-42G>A rs1559956
NM_001289808.2(CRYAB):c.*38G>C rs781853968
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001374675.1(HSF4):c.1341C>G (p.Leu447=) rs35750776
NM_001374675.1(HSF4):c.1475C>A (p.Pro492His) rs182365484
NM_001538.4(HSF4):c.-565G>A rs147591659
NM_001886.3(CRYBA4):c.345C>T (p.Phe115=)
NM_001886.3(CRYBA4):c.40-11del
NM_001887.4(CRYBB1):c.299+16C>A rs57400078
NM_002340.6(LSS):c.181-16_181-15del rs10550493
NM_002340.6(LSS):c.181-27dup rs10550493
NM_003380.5(VIM):c.1133G>A (p.Arg378His)
NM_003380.5(VIM):c.1360-7del
NM_003380.5(VIM):c.1360-7dup rs750651760
NM_003380.5(VIM):c.720+18C>T rs7096093
NM_003380.5(VIM):c.807G>T (p.Leu269=) rs745874397
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)
NM_004431.5(EPHA2):c.1428+16G>A
NM_004431.5(EPHA2):c.154-5C>T rs369642940
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=) rs143247718
NM_004431.5(EPHA2):c.2476-5G>A rs374463695
NM_004431.5(EPHA2):c.714G>C (p.Pro238=) rs36037949
NM_005208.5(CRYBA1):c.346A>G (p.Ile116Val)
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005267.4(GJA8):c.*26dup rs34123490
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln) rs587673409
NM_005267.5(GJA8):c.1105G>T (p.Gly369Trp) rs781881392
NM_005360.5(MAF):c.-30GGC[7] rs5818251
NM_005360.5(MAF):c.456C>T (p.Gly152=) rs1913849090
NM_005360.5(MAF):c.594C>T (p.Gly198=)
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del) rs887468453
NM_012064.4(MIP):c.*1238dup rs111463603
NM_012064.4(MIP):c.*1373A>G rs181959264
NM_012064.4(MIP):c.*148del rs35639464
NM_014290.3(TDRD7):c.-133C>G rs10982012
NM_015073.3(SIPA1L3):c.5203-29G>A rs74573108
NM_018216.4(PANK4):c.1640C>T (p.Ala547Val)
NM_018216.4(PANK4):c.393A>G (p.Lys131=)
NM_018238.4(AGK):c.1046+13G>C
NM_018238.4(AGK):c.142-10del
NM_018238.4(AGK):c.424-3del
NM_018238.4(AGK):c.424-3dup rs201762775
NM_018238.4(AGK):c.424-4C>A rs113085050
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.669-6del
NM_018238.4(AGK):c.975+16dup
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) rs11617415
NM_024513.4(FYCO1):c.*1415G>A rs1488374
NM_024513.4(FYCO1):c.*3178G>T rs1047444
NM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser)
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_153427.2(PITX2):c.-485C>G rs2739200
NM_176812.5(CHMP4B):c.270G>A (p.Glu90=)
NM_176812.5(CHMP4B):c.450G>A (p.Ser150=)

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