ClinVar Miner

List of variants reported as uncertain significance for cataract by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 473
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) rs143080187 0.00094
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys) rs150085001 0.00056
NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn) rs561395667 0.00056
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
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_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) rs201764993 0.00038
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His) rs149232677 0.00034
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) rs141828619 0.00029
NM_001195.5(BFSP1):c.1936G>A (p.Val646Met) rs145017887 0.00027
NM_001195.5(BFSP1):c.526C>T (p.His176Tyr) rs140135049 0.00027
NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr) rs147718368 0.00026
NM_017541.4(CRYGS):c.215G>A (p.Arg72His) rs144812537 0.00026
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_003380.5(VIM):c.911G>A (p.Arg304Gln) rs552165238 0.00021
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys) rs144172331 0.00020
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro) rs142111893 0.00019
NM_001887.4(CRYBB1):c.394C>T (p.Arg132Cys) rs148083686 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_001161748.2(LIM2):c.281G>A (p.Arg94His) rs770425768 0.00018
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070 0.00016
NM_018238.4(AGK):c.764C>T (p.Thr255Met) rs112625649 0.00015
NM_001161748.2(LIM2):c.334G>A (p.Val112Ile) rs142030761 0.00014
NM_004076.5(CRYBB3):c.263G>A (p.Arg88His) rs138167578 0.00014
NM_014290.3(TDRD7):c.854C>T (p.Thr285Met) rs141457141 0.00013
NM_014290.3(TDRD7):c.295C>T (p.Arg99Cys) rs200783564 0.00012
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu) rs377677067 0.00012
NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu) rs777977625 0.00011
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_004431.5(EPHA2):c.2826C>T (p.Asp942=) rs143828420 0.00011
NM_000496.3(CRYBB2):c.242G>A (p.Arg81His) rs146763276 0.00010
NM_005210.4(CRYGB):c.44G>A (p.Arg15His) rs370450145 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) rs372021321 0.00010
NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp) rs372210205 0.00009
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_012064.4(MIP):c.713A>C (p.Lys238Thr) rs755752015 0.00009
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) rs72889997 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_004431.5(EPHA2):c.1283G>A (p.Arg428His) rs138475231 0.00008
NM_001374675.1(HSF4):c.250G>C (p.Val84Leu) rs747840876 0.00007
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln) rs755500518 0.00007
NM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu) rs377256529 0.00007
NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp) rs376164744 0.00006
NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser) rs770592991 0.00006
NM_000496.3(CRYBB2):c.304G>A (p.Val102Met) rs769620041 0.00006
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) rs200002097 0.00006
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818 0.00006
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_014290.3(TDRD7):c.2104T>A (p.Ser702Thr) rs946019953 0.00006
NM_018238.4(AGK):c.410G>A (p.Arg137Gln) rs770394329 0.00006
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) rs766975987 0.00006
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu) rs774444626 0.00006
NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val) rs142098311 0.00006
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val) rs374476265 0.00005
NM_018238.4(AGK):c.655G>A (p.Val219Ile) rs201584377 0.00005
NM_001374675.1(HSF4):c.1196G>A (p.Gly399Asp) rs199896245 0.00004
NM_001374675.1(HSF4):c.257T>C (p.Ile86Thr) rs758027535 0.00004
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys) rs200427106 0.00004
NM_003380.5(VIM):c.758A>G (p.His253Arg) rs773762488 0.00004
NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp) rs200862865 0.00004
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn) rs754447639 0.00004
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) rs782306193 0.00004
NM_014290.3(TDRD7):c.1261C>A (p.His421Asn) rs112811088 0.00004
NM_014290.3(TDRD7):c.2872G>A (p.Ala958Thr) rs751158396 0.00004
NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala) rs375632598 0.00004
NM_018238.4(AGK):c.203A>G (p.Asn68Ser) rs565745559 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) rs745338967 0.00004
NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His) rs375376263 0.00004
NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly) rs778635228 0.00004
NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val) rs530186829 0.00003
NM_001886.3(CRYBA4):c.300+2T>C rs372271933 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_005208.5(CRYBA1):c.548T>C (p.Leu183Ser) rs773038726 0.00003
NM_005267.5(GJA8):c.487G>A (p.Val163Met) rs374680617 0.00003
NM_017541.4(CRYGS):c.236G>A (p.Arg79His) rs764969189 0.00003
NM_018238.4(AGK):c.257C>G (p.Pro86Arg) rs762680550 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) rs751793566 0.00003
NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) rs149020169 0.00003
NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala) rs765835212 0.00003
NM_000394.4(CRYAA):c.75G>C (p.Gln25His) rs754701447 0.00002
NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln) rs765144287 0.00002
NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala) rs756439203 0.00002
NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile) rs752902567 0.00002
NM_001374675.1(HSF4):c.741G>A (p.Glu247=) rs373435397 0.00002
NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser) rs372922337 0.00002
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu) rs747087417 0.00002
NM_014290.3(TDRD7):c.1276A>G (p.Ile426Val) rs766673237 0.00002
NM_018238.4(AGK):c.401G>A (p.Gly134Asp) rs568195338 0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile) rs747244579 0.00002
NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr) rs1227057051 0.00001
NM_001161748.2(LIM2):c.175+87A>G rs369343996 0.00001
NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln) rs780229198 0.00001
NM_001195.5(BFSP1):c.735+19C>T rs747126284 0.00001
NM_001374675.1(HSF4):c.1030C>T (p.Pro344Ser) rs932918368 0.00001
NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly) rs753084587 0.00001
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) rs770940749 0.00001
NM_001886.3(CRYBA4):c.227G>C (p.Ser76Thr) rs776573050 0.00001
NM_001886.3(CRYBA4):c.352A>G (p.Lys118Glu) rs1305546354 0.00001
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) rs780358100 0.00001
NM_001887.4(CRYBB1):c.358G>A (p.Glu120Lys) rs762762177 0.00001
NM_003380.5(VIM):c.134G>A (p.Arg45His) rs778098458 0.00001
NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) rs773938980 0.00001
NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg) rs746239628 0.00001
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) rs761928478 0.00001
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) rs765261745 0.00001
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) rs2024583180 0.00001
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) rs759687964 0.00001
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) rs754323552 0.00001
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu) rs745991398 0.00001
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys) rs1380012052 0.00001
NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro) rs1045592971 0.00001
NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) rs781871271 0.00001
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn) rs782429592 0.00001
NM_005267.5(GJA8):c.317G>A (p.Arg106His) rs917690151 0.00001
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) rs1368547478 0.00001
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp) rs775799498 0.00001
NM_012064.4(MIP):c.119A>G (p.His40Arg) rs1436119727 0.00001
NM_014290.3(TDRD7):c.2941A>G (p.Ile981Val) rs763792246 0.00001
NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln) rs758400042 0.00001
NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys) rs1035614113 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.880C>A (p.Leu294Ile) rs139547145 0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) rs863223893 0.00001
NM_021954.4(GJA3):c.655A>G (p.Met219Val) rs746511873 0.00001
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr) rs752338309 0.00001
NM_024513.4(FYCO1):c.241G>A (p.Val81Met) rs1167055520 0.00001
NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp) rs1346321563 0.00001
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His) rs775657304 0.00001
NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys) rs776739152 0.00001
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) rs150218695 0.00001
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) rs762929660 0.00001
NC_000001.10:g.(?_146714354)_(147381384_?)dup
NC_000001.10:g.(?_16460943)_(16482447_?)dup
NC_000006.11:g.(?_10398650)_(10882026_?)dup
NC_000007.13:g.(?_141255267)_(141352724_?)dup
NC_000012.11:g.(?_56711393)_(58190366_?)dup
NC_000013.10:g.(?_20716100)_(20717447_?)dup
NC_000013.11:g.(?_20141961)_(20824841_?)del
NC_000017.10:g.(?_27579473)_(27581294_?)del
NC_000020.10:g.(?_17462209)_(17511974_?)dup
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NC_000022.10:g.(?_25601167)_(25601349_?)dup
NC_000022.10:g.(?_25623800)_(25627739_?)dup
NC_000022.10:g.(?_26142492)_(27026451_?)del
NC_000022.10:g.(?_26995454)_(26995657_?)del
NM_000394.4(CRYAA):c.190-24_190-10del
NM_000394.4(CRYAA):c.199G>C (p.Asp67His) rs747872625
NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup) rs2146498671
NM_000394.4(CRYAA):c.35G>A (p.Arg12His) rs776884812
NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)
NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)
NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)
NM_000496.3(CRYBB2):c.173+1G>T rs770540384
NM_000496.3(CRYBB2):c.174-12T>A
NM_000496.3(CRYBB2):c.292_293delinsCC (p.Arg98Pro)
NM_000496.3(CRYBB2):c.384T>G (p.Asp128Glu) rs1395903116
NM_000496.3(CRYBB2):c.389C>G (p.Pro130Arg)
NM_000496.3(CRYBB2):c.431T>A (p.Val144Glu) rs2146093751
NM_000496.3(CRYBB2):c.434G>C (p.Arg145Pro)
NM_000496.3(CRYBB2):c.449+6T>A
NM_000496.3(CRYBB2):c.479G>C (p.Arg160Pro)
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg) rs1569022638
NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val) rs1935386462
NM_001161748.2(LIM2):c.175+46G>A rs1987086753
NM_001161748.2(LIM2):c.321del (p.Ser108fs) rs1986917705
NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)
NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter) rs1212925287
NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)
NM_001161748.2(LIM2):c.487G>A (p.Val163Met)
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)
NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)
NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)
NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)
NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)
NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys)
NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)
NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr)
NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs) rs1555799947
NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp)
NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)
NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)
NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr)
NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)
NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)
NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr)
NM_001374675.1(HSF4):c.1162dup (p.Ser388fs) rs2145927381
NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)
NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)
NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp) rs2031203924
NM_001374675.1(HSF4):c.217C>T (p.Arg73Cys)
NM_001374675.1(HSF4):c.232+4A>G rs1567668314
NM_001374675.1(HSF4):c.322C>A (p.Arg108Ser)
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
NM_001374675.1(HSF4):c.350T>G (p.Val117Gly) rs1555549881
NM_001374675.1(HSF4):c.353G>C (p.Arg118Pro)
NM_001374675.1(HSF4):c.360G>A (p.Lys120=)
NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)
NM_001374675.1(HSF4):c.413G>A (p.Arg138Gln)
NM_001374675.1(HSF4):c.442G>A (p.Gly148Arg) rs1567668765
NM_001374675.1(HSF4):c.821G>A (p.Gly274Glu)
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val) rs1554129925
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg) rs771422892
NM_001886.3(CRYBA4):c.136T>C (p.Ser46Pro) rs1929601316
NM_001886.3(CRYBA4):c.148del (p.Val49_Leu50insTer) rs2145979078
NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)
NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val) rs1929674480
NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter) rs199635152
NM_001886.3(CRYBA4):c.214G>A (p.Gly72Ser) rs1929676368
NM_001886.3(CRYBA4):c.300+1del
NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)
NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)
NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)
NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro) rs758790937
NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser) rs1602338380
NM_001887.4(CRYBB1):c.234G>T (p.Gly78=) rs1569206910
NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)
NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)
NM_001887.4(CRYBB1):c.432+5G>C rs1555940959
NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)
NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)
NM_001887.4(CRYBB1):c.697C>T (p.Arg233Cys)
NM_001887.4(CRYBB1):c.712dup (p.His238fs) rs1602319108
NM_001887.4(CRYBB1):c.753dup (p.Lys252fs)
NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)
NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)
NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) rs1846907790
NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)
NM_003380.5(VIM):c.468G>C (p.Glu156Asp) rs1846752790
NM_003380.5(VIM):c.598G>C (p.Glu200Gln) rs1037734535
NM_003380.5(VIM):c.626A>G (p.Asp209Gly)
NM_003380.5(VIM):c.814G>A (p.Val272Ile)
NM_003380.5(VIM):c.82C>G (p.Arg28Gly)
NM_003571.4(BFSP2):c.1100T>G (p.Val367Gly) rs144693104
NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)
NM_003571.4(BFSP2):c.185C>A (p.Pro62His)
NM_003571.4(BFSP2):c.190G>T (p.Gly64Trp)
NM_003571.4(BFSP2):c.215G>A (p.Arg72His)
NM_003571.4(BFSP2):c.344TGG[1] (p.Val116del) rs2107871422
NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) rs375380005
NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)
NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met) rs1363417170
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His) rs183587921
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu) rs183587921
NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)
NM_004076.5(CRYBB3):c.471-5G>A rs776776705
NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu) rs1935047601
NM_004431.5(EPHA2):c.1063G>A (p.Gly355Arg)
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp) rs1248366791
NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)
NM_004431.5(EPHA2):c.1180C>T (p.Arg394Cys)
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)
NM_004431.5(EPHA2):c.1456C>T (p.Arg486Cys)
NM_004431.5(EPHA2):c.1577C>T (p.Thr526Met)
NM_004431.5(EPHA2):c.1618G>A (p.Gly540Ser)
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)
NM_004431.5(EPHA2):c.1801G>T (p.Val601Leu)
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)
NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser) rs922655349
NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp) rs55869078
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys) rs903033191
NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro) rs775490586
NM_004431.5(EPHA2):c.2826-35_2890del
NM_004431.5(EPHA2):c.2827G>A (p.Asp943Asn)
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)
NM_004431.5(EPHA2):c.697C>T (p.His233Tyr)
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp) rs759269511
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg) rs2068927678
NM_005208.5(CRYBA1):c.215+5G>A
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)
NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs) rs2153009713
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter) rs773038726
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) rs786205628
NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)
NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu) rs200143566
NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)
NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu)
NM_005267.5(GJA8):c.1125dup (p.Gly376fs)
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) rs782314953
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter)
NM_005267.5(GJA8):c.122C>T (p.Ala41Val)
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) rs782206624
NM_005267.5(GJA8):c.148T>C (p.Ser50Pro)
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) rs2149015470
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) rs781782991
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) rs2149015529
NM_005267.5(GJA8):c.246C>G (p.Ile82Met)
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe)
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln)
NM_005267.5(GJA8):c.473A>G (p.Lys158Arg) rs2149015799
NM_005267.5(GJA8):c.481T>G (p.Phe161Val) rs1558009685
NM_005267.5(GJA8):c.499G>T (p.Val167Leu) rs1426006227
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser)
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly) rs2149016020
NM_005267.5(GJA8):c.67A>G (p.Arg23Gly) rs1558009094
NM_005267.5(GJA8):c.839C>T (p.Pro280Leu) rs1571177590
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840
NM_005360.5(MAF):c.260A>C (p.His87Pro)
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.468G>C (p.Glu156Asp)
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
NM_005360.5(MAF):c.644G>A (p.Gly215Asp)
NM_005360.5(MAF):c.655G>A (p.Gly219Ser)
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup) rs887468453
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.797T>G (p.Leu266Arg) rs2143802492
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
NM_005360.5(MAF):c.892A>C (p.Asn298His)
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)
NM_005360.5(MAF):c.905C>A (p.Ala302Asp) rs1481963503
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr) rs1913782042
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005360.5(MAF):c.922A>G (p.Lys308Glu)
NM_005360.5(MAF):c.935A>G (p.Gln312Arg)
NM_012064.4(MIP):c.172T>G (p.Ser58Ala)
NM_012064.4(MIP):c.323C>T (p.Thr108Ile) rs760722691
NM_012064.4(MIP):c.433A>C (p.Ile145Leu) rs1868692984
NM_012064.4(MIP):c.458G>A (p.Arg153Gln)
NM_012064.4(MIP):c.560G>T (p.Arg187Leu) rs759746926
NM_014290.3(TDRD7):c.1535A>G (p.Gln512Arg)
NM_014290.3(TDRD7):c.1760A>G (p.Asp587Gly) rs1828932238
NM_014290.3(TDRD7):c.2147G>A (p.Gly716Glu)
NM_014290.3(TDRD7):c.2344A>C (p.Met782Leu) rs752597965
NM_014290.3(TDRD7):c.2344A>G (p.Met782Val)
NM_014290.3(TDRD7):c.2494A>G (p.Ile832Val)
NM_014290.3(TDRD7):c.2603C>T (p.Pro868Leu) rs764446051
NM_014290.3(TDRD7):c.2641C>G (p.Leu881Val)
NM_014290.3(TDRD7):c.2683G>A (p.Ala895Thr)
NM_014290.3(TDRD7):c.2684C>A (p.Ala895Asp)
NM_014290.3(TDRD7):c.3004A>G (p.Ile1002Val) rs202206922
NM_014290.3(TDRD7):c.3010A>G (p.Lys1004Glu)
NM_014290.3(TDRD7):c.692C>G (p.Thr231Ser) rs756033246
NM_017541.4(CRYGS):c.107G>A (p.Arg36His)
NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)
NM_017541.4(CRYGS):c.21+6T>C
NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp) rs761628147
NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg) rs1714002505
NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr) rs1714002434
NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr) rs1553846926
NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr) rs1275239379
NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys) rs143424000
NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)
NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) rs758017978
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly) rs748320721
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
NM_018238.4(AGK):c.222-3C>G
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.343A>C (p.Asn115His)
NM_018238.4(AGK):c.352G>A (p.Val118Met)
NM_018238.4(AGK):c.391-9C>G
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>T
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.42A>G (p.Lys14=)
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly) rs888790526
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu) rs200104400
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) rs1057521780
NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.805C>A (p.Pro269Thr) rs773675584
NM_018238.4(AGK):c.80A>C (p.His27Pro)
NM_018238.4(AGK):c.80A>G (p.His27Arg)
NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg) rs1593332899
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr) rs1566515377
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)
NM_021954.4(GJA3):c.19C>G (p.Leu7Val) rs1555339543
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
NM_021954.4(GJA3):c.246C>G (p.Ile82Met) rs781267768
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp) rs755792418
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) rs1555339477
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg) rs2141138491
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) rs2141137977
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu) rs771424292
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln) rs1958816239
NM_021954.4(GJA3):c.868del (p.Ala290fs)
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
NM_024513.4(FYCO1):c.1051C>G (p.Leu351Val) rs2125852762
NM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser) rs533418314
NM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln)
NM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser)
NM_024513.4(FYCO1):c.217T>C (p.Tyr73His) rs762153899
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) rs755356775
NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)
NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)
NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)
NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu) rs779617235
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) rs1705246252
NM_024513.4(FYCO1):c.396T>C (p.Ser132=)
NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)
NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)
NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe) rs2125787935
NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)
NM_024513.4(FYCO1):c.4362-2A>G
NM_024513.4(FYCO1):c.44G>C (p.Arg15Pro)
NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) rs1460800228
NM_024513.4(FYCO1):c.590G>T (p.Arg197Leu)
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr) rs1554139314
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)
NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)
NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln) rs118203966

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