ClinVar Miner

List of variants in gene EFEMP2 studied for congenital entropion

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_016938.5(EFEMP2):c.490+23G>C rs630394 0.59356
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_016938.5(EFEMP2):c.368-18G>A rs80047413 0.00337
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=) rs61740381 0.00098
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990 0.00092
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=) rs2234467 0.00060
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=) rs145853251 0.00048
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_016938.5(EFEMP2):c.1170+17C>T rs200146991 0.00043
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00037
NM_016938.4(EFEMP2):c.-229G>C rs886048510 0.00036
NM_016938.5(EFEMP2):c.-13G>A rs886048507 0.00036
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=) rs2234471 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=) rs150546623 0.00017
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=) rs112355691 0.00012
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_016938.5(EFEMP2):c.975-11G>A rs376275864 0.00011
NM_016938.5(EFEMP2):c.531C>T (p.Cys177=) rs762305922 0.00009
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=) rs371712739 0.00009
NM_016938.5(EFEMP2):c.848-16C>T rs773386551 0.00008
NM_016938.5(EFEMP2):c.727+11C>T rs369000940 0.00007
NM_016938.5(EFEMP2):c.847+13C>T rs762497696 0.00007
NM_016938.5(EFEMP2):c.975-15C>T rs768211662 0.00007
NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=) rs769127200 0.00006
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu) rs779247685 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) rs546162289 0.00006
NM_016938.5(EFEMP2):c.864G>A (p.Glu288=) rs759514025 0.00006
NM_016938.5(EFEMP2):c.111+17C>G rs768070943 0.00005
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_016938.5(EFEMP2):c.498C>T (p.Asp166=) rs757273990 0.00005
NM_016938.5(EFEMP2):c.607+10G>T rs774887200 0.00005
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) rs532989312 0.00005
NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=) rs146180527 0.00004
NM_016938.5(EFEMP2):c.12C>T (p.Cys4=) rs1196692310 0.00004
NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg) rs373922246 0.00004
NM_016938.5(EFEMP2):c.267C>T (p.Asn89=) rs572217864 0.00004
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=) rs770791862 0.00004
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) rs370848091 0.00004
NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn) rs370759216 0.00004
NM_016938.5(EFEMP2):c.34C>T (p.Leu12=) rs990066080 0.00004
NM_016938.5(EFEMP2):c.396C>T (p.His132=) rs545330660 0.00004
NM_016938.5(EFEMP2):c.783G>A (p.Glu261=) rs779131358 0.00004
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys) rs781700061 0.00004
NM_016938.5(EFEMP2):c.974+12C>T rs772378278 0.00004
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) rs755197148 0.00003
NM_016938.5(EFEMP2):c.1170+3A>G rs771815109 0.00003
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) rs369601362 0.00003
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) rs148940436 0.00003
NM_016938.5(EFEMP2):c.873G>A (p.Ala291=) rs140784880 0.00003
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) rs754118526 0.00002
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His) rs760786490 0.00002
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr) rs1307880504 0.00002
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) rs372018326 0.00002
NM_016938.5(EFEMP2):c.160+8T>C rs1441745834 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_016938.5(EFEMP2):c.279C>T (p.Gly93=) rs769750626 0.00002
NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser) rs756704201 0.00002
NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys) rs1394549414 0.00002
NM_016938.5(EFEMP2):c.368-5C>T rs201248112 0.00002
NM_016938.5(EFEMP2):c.375C>T (p.Asp125=) rs758495680 0.00002
NM_016938.5(EFEMP2):c.54A>G (p.Leu18=) rs367928701 0.00002
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr) rs778873365 0.00002
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) rs373202527 0.00002
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) rs749794461 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_016938.5(EFEMP2):c.941G>A (p.Arg314His) rs760501413 0.00002
NM_016938.5(EFEMP2):c.-10C>T rs1859987394 0.00001
NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=) rs765442560 0.00001
NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln) rs138210467 0.00001
NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val) rs768004972 0.00001
NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His) rs373485109 0.00001
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met) rs921412303 0.00001
NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser) rs1294797610 0.00001
NM_016938.5(EFEMP2):c.112-4C>A rs900644594 0.00001
NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr) rs1468378128 0.00001
NM_016938.5(EFEMP2):c.186T>C (p.Pro62=) rs745699648 0.00001
NM_016938.5(EFEMP2):c.19T>G (p.Cys7Gly) rs1344778966 0.00001
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_016938.5(EFEMP2):c.252C>T (p.Ser84=) rs767033176 0.00001
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr) rs148604051 0.00001
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) rs141721562 0.00001
NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr) rs1008465800 0.00001
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) rs762409753 0.00001
NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn) rs749326725 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.423T>C (p.His141=) rs1314192173 0.00001
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) rs377199919 0.00001
NM_016938.5(EFEMP2):c.475G>A (p.Gly159Arg) rs1248173748 0.00001
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn) rs145037272 0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) rs763944898 0.00001
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) rs762712612 0.00001
NM_016938.5(EFEMP2):c.541C>T (p.Pro181Ser) rs1351534292 0.00001
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) rs1361657266 0.00001
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) rs1565273832 0.00001
NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys) rs766531680 0.00001
NM_016938.5(EFEMP2):c.600C>A (p.Ser200=) rs1032092509 0.00001
NM_016938.5(EFEMP2):c.607+18C>A rs571631117 0.00001
NM_016938.5(EFEMP2):c.608-2A>G rs1224841813 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_016938.5(EFEMP2):c.615C>T (p.Asn205=) rs760174107 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_016938.5(EFEMP2):c.651C>T (p.Cys217=) rs765884191 0.00001
NM_016938.5(EFEMP2):c.657C>T (p.Asn219=) rs1372273571 0.00001
NM_016938.5(EFEMP2):c.677G>A (p.Cys226Tyr) rs760244280 0.00001
NM_016938.5(EFEMP2):c.699G>A (p.Glu233=) rs1206569334 0.00001
NM_016938.5(EFEMP2):c.741T>C (p.Cys247=) rs1200560839 0.00001
NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=) rs1391116927 0.00001
NM_016938.5(EFEMP2):c.768C>T (p.Tyr256=) rs1591066103 0.00001
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) rs756905509 0.00001
NM_016938.5(EFEMP2):c.847+20G>A rs759195625 0.00001
NM_016938.5(EFEMP2):c.848-11C>T rs776698728 0.00001
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) rs766494495 0.00001
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met) rs544423133 0.00001
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) rs1011011078 0.00001
NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala) rs1161566620 0.00001
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) rs781029572 0.00001
NC_000011.10:g.(?_65871960)_(65872944_?)del
NC_000011.9:g.(?_65634389)_(65639825_?)dup
NM_016938.4(EFEMP2):c.-143_-140GGCG[4] rs886048508
NM_016938.4(EFEMP2):c.-181G>A rs886048509
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)
NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)
NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=) rs2134746954
NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=) rs2134746942
NM_016938.5(EFEMP2):c.1044_1059dup (p.Arg354fs)
NM_016938.5(EFEMP2):c.1050C>T (p.Ile350=)
NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp)
NM_016938.5(EFEMP2):c.1065C>T (p.Ser355=)
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)
NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=) rs758240045
NM_016938.5(EFEMP2):c.1080G>C (p.Val360=)
NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=)
NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=)
NM_016938.5(EFEMP2):c.109_111+3del rs1859976995
NM_016938.5(EFEMP2):c.111+18C>G
NM_016938.5(EFEMP2):c.111+18C>T
NM_016938.5(EFEMP2):c.111+19G>A
NM_016938.5(EFEMP2):c.111+4_111+12del rs2134753586
NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=) rs146180527
NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=)
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) rs1555042727
NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro)
NM_016938.5(EFEMP2):c.1135del (p.Arg379fs)
NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=)
NM_016938.5(EFEMP2):c.1156G>A (p.Asp386Asn)
NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His) rs777806636
NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=) rs1859884972
NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His)
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)
NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=)
NM_016938.5(EFEMP2):c.1170+11T>C
NM_016938.5(EFEMP2):c.1170+12G>A
NM_016938.5(EFEMP2):c.1170+13C>T rs2134746467
NM_016938.5(EFEMP2):c.1170+1G>A rs1859884792
NM_016938.5(EFEMP2):c.129T>C (p.Tyr43=)
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) rs936904481
NM_016938.5(EFEMP2):c.160+14G>T
NM_016938.5(EFEMP2):c.160+17G>A
NM_016938.5(EFEMP2):c.160+17G>T rs1274496096
NM_016938.5(EFEMP2):c.160+20C>T rs1859971594
NM_016938.5(EFEMP2):c.160+7G>T
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) rs886048506
NM_016938.5(EFEMP2):c.161-13C>A rs771655821
NM_016938.5(EFEMP2):c.161-6C>T
NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp) rs2134752336
NM_016938.5(EFEMP2):c.165C>G (p.Val55=)
NM_016938.5(EFEMP2):c.168C>T (p.Asn56=) rs367732454
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.180C>A (p.Thr60=) rs780024554
NM_016938.5(EFEMP2):c.180C>T (p.Thr60=)
NM_016938.5(EFEMP2):c.183C>T (p.Ile61=) rs1591067866
NM_016938.5(EFEMP2):c.18C>T (p.Ser6=)
NM_016938.5(EFEMP2):c.204A>G (p.Glu68=)
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr) rs1859961874
NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=)
NM_016938.5(EFEMP2):c.229_230dup (p.Tyr78fs)
NM_016938.5(EFEMP2):c.234C>T (p.Tyr78=) rs2134752225
NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp) rs1591067819
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)
NM_016938.5(EFEMP2):c.248G>A (p.Arg83His) rs1281626120
NM_016938.5(EFEMP2):c.258C>G (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.264C>T (p.Ile88=)
NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn) rs1859960797
NM_016938.5(EFEMP2):c.270C>T (p.Asp90=)
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
NM_016938.5(EFEMP2):c.291G>A (p.Pro97=)
NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu) rs780659504
NM_016938.5(EFEMP2):c.297A>C (p.Pro99=)
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)
NM_016938.5(EFEMP2):c.306C>G (p.Pro102=)
NM_016938.5(EFEMP2):c.30G>A (p.Gly10=)
NM_016938.5(EFEMP2):c.315C>T (p.His105=) rs774020582
NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys) rs2134753788
NM_016938.5(EFEMP2):c.333A>G (p.Pro111=)
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
NM_016938.5(EFEMP2):c.345C>G (p.Pro115=)
NM_016938.5(EFEMP2):c.345C>T (p.Pro115=) rs770611350
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=) rs376350227
NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn) rs756326099
NM_016938.5(EFEMP2):c.367+10del
NM_016938.5(EFEMP2):c.367+13T>C
NM_016938.5(EFEMP2):c.368-13del rs2134751365
NM_016938.5(EFEMP2):c.368-16G>A
NM_016938.5(EFEMP2):c.368-20C>T
NM_016938.5(EFEMP2):c.368-2A>G
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) rs1859949436
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.404G>A (p.Arg135His) rs773352910
NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr)
NM_016938.5(EFEMP2):c.437_439del (p.Ser146del) rs2134751198
NM_016938.5(EFEMP2):c.44G>A (p.Trp15Ter)
NM_016938.5(EFEMP2):c.450C>T (p.Thr150=)
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)
NM_016938.5(EFEMP2):c.466C>A (p.Arg156Ser)
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln)
NM_016938.5(EFEMP2):c.48G>T (p.Ala16=)
NM_016938.5(EFEMP2):c.490+16A>G
NM_016938.5(EFEMP2):c.490+8C>T rs2134751112
NM_016938.5(EFEMP2):c.490+9A>T rs1465424178
NM_016938.5(EFEMP2):c.491-13C>G
NM_016938.5(EFEMP2):c.491-15T>C
NM_016938.5(EFEMP2):c.491-4C>G
NM_016938.5(EFEMP2):c.491-5C>G rs749980581
NM_016938.5(EFEMP2):c.491-6C>T
NM_016938.5(EFEMP2):c.492C>T (p.Asp164=)
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) rs1859941615
NM_016938.5(EFEMP2):c.49C>T (p.Leu17=)
NM_016938.5(EFEMP2):c.512G>A (p.Arg171His)
NM_016938.5(EFEMP2):c.513C>T (p.Arg171=)
NM_016938.5(EFEMP2):c.519C>T (p.Cys173=)
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His) rs772504760
NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp)
NM_016938.5(EFEMP2):c.538C>T (p.Leu180=) rs1859940269
NM_016938.5(EFEMP2):c.543T>C (p.Pro181=)
NM_016938.5(EFEMP2):c.546C>T (p.Gly182=)
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)
NM_016938.5(EFEMP2):c.570G>T (p.Pro190=) rs145853251
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
NM_016938.5(EFEMP2):c.607+14G>T
NM_016938.5(EFEMP2):c.607+19A>G
NM_016938.5(EFEMP2):c.608-1G>C rs888015688
NM_016938.5(EFEMP2):c.608-5_608-4delinsAG
NM_016938.5(EFEMP2):c.608-7C>T
NM_016938.5(EFEMP2):c.609T>C (p.Asp203=)
NM_016938.5(EFEMP2):c.616G>A (p.Glu206Lys) rs1450189245
NM_016938.5(EFEMP2):c.618G>A (p.Glu206=) rs2134750264
NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile)
NM_016938.5(EFEMP2):c.633C>A (p.Ala211=)
NM_016938.5(EFEMP2):c.636A>G (p.Pro212=)
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) rs1442174846
NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys)
NM_016938.5(EFEMP2):c.663T>C (p.Tyr221=)
NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser)
NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile)
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_016938.5(EFEMP2):c.690G>C (p.Gln230His)
NM_016938.5(EFEMP2):c.6C>A (p.Leu2=) rs1198242126
NM_016938.5(EFEMP2):c.6C>T (p.Leu2=)
NM_016938.5(EFEMP2):c.702G>A (p.Leu234=)
NM_016938.5(EFEMP2):c.711T>C (p.Asp237=)
NM_016938.5(EFEMP2):c.726T>C (p.Ser242=)
NM_016938.5(EFEMP2):c.727+14C>T
NM_016938.5(EFEMP2):c.727+16C>G
NM_016938.5(EFEMP2):c.727+19C>G
NM_016938.5(EFEMP2):c.727+7G>A
NM_016938.5(EFEMP2):c.727+7G>C
NM_016938.5(EFEMP2):c.727+8C>T
NM_016938.5(EFEMP2):c.728-11T>C rs2134748381
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_016938.5(EFEMP2):c.759C>G (p.Leu253=) rs1555042933
NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)
NM_016938.5(EFEMP2):c.774_776delinsTGC (p.Ile259Ala) rs1859906581
NM_016938.5(EFEMP2):c.778_780del (p.Asn260del)
NM_016938.5(EFEMP2):c.792T>C (p.Arg264=)
NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr) rs1436359315
NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser)
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.828G>T (p.Leu276=)
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.847+14G>A
NM_016938.5(EFEMP2):c.847+9T>C
NM_016938.5(EFEMP2):c.848-12C>T
NM_016938.5(EFEMP2):c.848-15T>C
NM_016938.5(EFEMP2):c.848-1_850del
NM_016938.5(EFEMP2):c.848-9C>T
NM_016938.5(EFEMP2):c.851T>C (p.Ile284Thr) rs1859902632
NM_016938.5(EFEMP2):c.852T>A (p.Ile284=) rs200285623
NM_016938.5(EFEMP2):c.855T>C (p.Asp285=) rs2134747902
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) rs1044449024
NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln) rs752273286
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) rs753778921
NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser) rs769829583
NM_016938.5(EFEMP2):c.912T>C (p.His304=) rs1555042846
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
NM_016938.5(EFEMP2):c.918C>A (p.Gly306=)
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs) rs2134747667
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)
NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn) rs758052109
NM_016938.5(EFEMP2):c.933C>T (p.Asp311=)
NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal)
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=) rs754497556
NM_016938.5(EFEMP2):c.945C>T (p.Cys315=)
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) rs113167523
NM_016938.5(EFEMP2):c.964G>A (p.Val322Ile)
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) rs759573856
NM_016938.5(EFEMP2):c.969T>C (p.Ser323=)
NM_016938.5(EFEMP2):c.974+7C>T rs371085261
NM_016938.5(EFEMP2):c.975-12C>T
NM_016938.5(EFEMP2):c.975-20C>T
NM_016938.5(EFEMP2):c.975-32C>T rs594689
NM_016938.5(EFEMP2):c.975-5T>G
NM_016938.5(EFEMP2):c.976C>G (p.Arg326Gly)
NM_016938.5(EFEMP2):c.998A>G (p.Asn333Ser)
NM_016938.5(EFEMP2):c.999C>T (p.Asn333=)
NM_016938.5(EFEMP2):c.9C>A (p.Pro3=)

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