ClinVar Miner

List of variants in gene LMX1B studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 355
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.327-28396A>G rs3861871 0.46585
NM_001174147.2(LMX1B):c.327-318A>G rs10116233 0.46289
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=) rs2277158 0.45698
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_001174147.2(LMX1B):c.326+7G>C rs1336980 0.28269
NM_001174147.2(LMX1B):c.140-266A>G rs2235057 0.25849
NM_001174147.2(LMX1B):c.887-26G>T rs3737048 0.20498
NM_001174147.2(LMX1B):c.327-338A>G rs56663592 0.10822
NM_001174147.2(LMX1B):c.560-49C>T rs34682917 0.10592
NM_001174147.2(LMX1B):c.*51A>G rs10121481 0.08863
NM_001174147.2(LMX1B):c.*79G>A rs10115393 0.07595
NM_001174147.2(LMX1B):c.1051+19A>C rs975697104 0.07406
NM_001174147.2(LMX1B):c.*27G>A rs10115373 0.06554
NM_001174147.2(LMX1B):c.139+209C>T rs2235055 0.04402
NM_001174147.2(LMX1B):c.559+20G>A rs76196383 0.02910
NM_001174147.2(LMX1B):c.930G>A (p.Thr310=) rs112171815 0.01716
NM_001174147.2(LMX1B):c.327-283T>A rs113530471 0.01661
NM_001174147.2(LMX1B):c.327-273G>A rs112719988 0.01660
NM_001174147.2(LMX1B):c.*127C>T rs113846301 0.01560
NM_001174147.2(LMX1B):c.560-28A>C rs111456523 0.01243
NM_001174147.2(LMX1B):c.*280G>A rs111648919 0.01052
NM_001174147.2(LMX1B):c.560-175T>C rs111959047 0.00751
NM_001174147.2(LMX1B):c.560-87A>G rs113782126 0.00745
NM_001174147.2(LMX1B):c.560-19C>T rs112173596 0.00734
NM_001174147.2(LMX1B):c.534C>A (p.Ser178=) rs116316477 0.00498
NM_001174147.2(LMX1B):c.819+53G>A rs115842978 0.00498
NM_001174147.2(LMX1B):c.886+28G>A rs150656317 0.00426
NM_001174147.2(LMX1B):c.560-214G>A rs146508524 0.00364
NM_001174147.2(LMX1B):c.*3716C>G rs147614955 0.00324
NM_001174147.2(LMX1B):c.887-77T>A rs143965663 0.00310
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00104
NM_001174147.2(LMX1B):c.295C>A (p.Arg99=) rs141391682 0.00093
NM_001174147.2(LMX1B):c.*950G>C rs568763153 0.00080
NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=) rs148940265 0.00056
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=) rs544649941 0.00051
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_001174147.2(LMX1B):c.327-17G>A rs372620265 0.00026
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=) rs146476348 0.00016
NM_001174147.2(LMX1B):c.886+8G>A rs774459476 0.00012
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=) rs775705878 0.00011
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=) rs536687637 0.00010
NM_001174147.2(LMX1B):c.741+10G>A rs565143893 0.00009
NM_001174147.2(LMX1B):c.972G>C (p.Gln324His) rs886063418 0.00009
NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala) rs767281663 0.00008
NM_001174147.2(LMX1B):c.327-13T>C rs755470456 0.00008
NM_001174147.2(LMX1B):c.690G>A (p.Gln230=) rs749449104 0.00008
NM_001174147.2(LMX1B):c.130G>A (p.Val44Met) rs1017526258 0.00007
NM_001174147.2(LMX1B):c.139+19C>T rs371424668 0.00006
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=) rs540034621 0.00006
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=) rs550024836 0.00006
NM_001174147.2(LMX1B):c.899G>A (p.Ser300Asn) rs866053996 0.00006
NM_001174147.2(LMX1B):c.1116C>T (p.Phe372=) rs750636039 0.00005
NM_001174147.2(LMX1B):c.742-7G>C rs534963836 0.00005
NM_001174147.2(LMX1B):c.1014G>A (p.Thr338=) rs199580468 0.00004
NM_001174147.2(LMX1B):c.1017G>A (p.Pro339=) rs549494538 0.00004
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=) rs138385790 0.00004
NM_001174147.2(LMX1B):c.349G>A (p.Gly117Ser) rs773332016 0.00004
NM_001174147.2(LMX1B):c.375C>T (p.Thr125=) rs921576454 0.00004
NM_001174147.2(LMX1B):c.459C>T (p.Gly153=) rs779330478 0.00004
NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys) rs776839118 0.00004
NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp) rs560914000 0.00004
NM_001174147.2(LMX1B):c.1120G>A (p.Gly374Ser) rs769220332 0.00003
NM_001174147.2(LMX1B):c.1171C>T (p.Arg391Trp) rs141496559 0.00003
NM_001174147.2(LMX1B):c.366C>T (p.Ile122=) rs200350302 0.00003
NM_001174147.2(LMX1B):c.429C>T (p.Cys143=) rs886038509 0.00003
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=) rs142488434 0.00003
NM_001174147.2(LMX1B):c.594G>A (p.Pro198=) rs139862413 0.00003
NM_001174147.2(LMX1B):c.608G>A (p.Gly203Asp) rs750404792 0.00003
NM_001174147.2(LMX1B):c.894G>A (p.Leu298=) rs373033856 0.00003
NM_001174147.2(LMX1B):c.958G>A (p.Val320Met) rs778847250 0.00003
NM_001174147.2(LMX1B):c.1011C>T (p.Leu337=) rs1001731463 0.00002
NM_001174147.2(LMX1B):c.1173G>C (p.Arg391=) rs200484654 0.00002
NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys) rs199738980 0.00002
NM_001174147.2(LMX1B):c.559+7C>A rs373728590 0.00002
NM_001174147.2(LMX1B):c.57G>A (p.Thr19=) rs376265443 0.00002
NM_001174147.2(LMX1B):c.742-15C>G rs566334716 0.00002
NM_001174147.2(LMX1B):c.991G>A (p.Asp331Asn) rs777089988 0.00002
NM_001174147.2(LMX1B):c.99C>T (p.His33=) rs1835262985 0.00002
NM_001174147.2(LMX1B):c.1035C>T (p.Asp345=) rs755830984 0.00001
NM_001174147.2(LMX1B):c.1052-19C>T rs770215617 0.00001
NM_001174147.2(LMX1B):c.1052-8C>T rs749808946 0.00001
NM_001174147.2(LMX1B):c.1052G>A (p.Gly351Glu) rs2030330651 0.00001
NM_001174147.2(LMX1B):c.1084G>A (p.Asp362Asn) rs1420619429 0.00001
NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met) rs750526845 0.00001
NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr) rs761796969 0.00001
NM_001174147.2(LMX1B):c.180G>A (p.Gln60=) rs781592042 0.00001
NM_001174147.2(LMX1B):c.186C>T (p.Pro62=) rs757937784 0.00001
NM_001174147.2(LMX1B):c.22G>A (p.Glu8Lys) rs756001518 0.00001
NM_001174147.2(LMX1B):c.231C>T (p.His77=) rs1423332912 0.00001
NM_001174147.2(LMX1B):c.376G>A (p.Glu126Lys) rs761336753 0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 0.00001
NM_001174147.2(LMX1B):c.559G>A (p.Val187Met) rs765969991 0.00001
NM_001174147.2(LMX1B):c.637G>A (p.Gly213Arg) rs1472509996 0.00001
NM_001174147.2(LMX1B):c.720C>T (p.Val240=) rs1203103557 0.00001
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
NM_001174147.2(LMX1B):c.741+9C>T rs753041025 0.00001
NM_001174147.2(LMX1B):c.747A>T (p.Arg249=) rs1473062818 0.00001
NM_001174147.2(LMX1B):c.819+10C>T rs1261006209 0.00001
NM_001174147.2(LMX1B):c.834G>A (p.Ala278=) rs776615104 0.00001
NM_001174147.2(LMX1B):c.902G>A (p.Arg301His) rs773510108 0.00001
GRCh37/hg19 9q33.3(chr9:129370440-129513586)x1
GRCh37/hg19 9q33.3(chr9:129407543-129422451)x1
NC_000009.11:g.(?_129376729)_(129377858_?)del
NC_000009.11:g.(?_129376729)_(129377868_?)del
NC_000009.11:g.(?_129376729)_(129458730_?)del
NC_000009.11:g.(?_129377642)_(129377868_?)del
NC_000009.11:g.(?_129453095)_(129453367_?)dup
NC_000009.11:g.(?_129453095)_(129458730_?)del
NC_000009.12:g.126615383del
NM_001174147.2(LMX1B):c.1002G>T (p.Gln334His) rs1469503021
NM_001174147.2(LMX1B):c.1007G>A (p.Gly336Asp)
NM_001174147.2(LMX1B):c.103C>T (p.Leu35=)
NM_001174147.2(LMX1B):c.1051+23G>C rs776843607
NM_001174147.2(LMX1B):c.1051+27G>A rs146424259
NM_001174147.2(LMX1B):c.1051+27G>C rs146424259
NM_001174147.2(LMX1B):c.1051+92C>A rs149111178
NM_001174147.2(LMX1B):c.1052-18A>G
NM_001174147.2(LMX1B):c.1052-5C>T
NM_001174147.2(LMX1B):c.1057G>A (p.Asp353Asn) rs1310715839
NM_001174147.2(LMX1B):c.1061C>T (p.Ser354Phe)
NM_001174147.2(LMX1B):c.1080C>T (p.Asp360=)
NM_001174147.2(LMX1B):c.1098C>T (p.Thr366=)
NM_001174147.2(LMX1B):c.109C>T (p.Pro37Ser)
NM_001174147.2(LMX1B):c.1107C>A (p.Ser369Arg)
NM_001174147.2(LMX1B):c.1107C>T (p.Ser369=) rs10115304
NM_001174147.2(LMX1B):c.1108G>A (p.Asp370Asn)
NM_001174147.2(LMX1B):c.1119C>T (p.Leu373=) rs555304586
NM_001174147.2(LMX1B):c.1124C>T (p.Ser375Phe)
NM_001174147.2(LMX1B):c.1132G>A (p.Val378Met)
NM_001174147.2(LMX1B):c.1134G>T (p.Val378=) rs2118998828
NM_001174147.2(LMX1B):c.1139C>T (p.Ser380Phe)
NM_001174147.2(LMX1B):c.1141C>T (p.Leu381=) rs1588309897
NM_001174147.2(LMX1B):c.1176C>G (p.Leu392=)
NM_001174147.2(LMX1B):c.1197C>T (p.Tyr399=)
NM_001174147.2(LMX1B):c.1203C>T (p.Ala401=)
NM_001174147.2(LMX1B):c.130dup (p.Val44fs)
NM_001174147.2(LMX1B):c.139+295G>A rs75894916
NM_001174147.2(LMX1B):c.139+5G>C rs1114167421
NM_001174147.2(LMX1B):c.140-12T>G
NM_001174147.2(LMX1B):c.140-13C>T
NM_001174147.2(LMX1B):c.140-14C>T
NM_001174147.2(LMX1B):c.140-15C>A
NM_001174147.2(LMX1B):c.140-1G>A
NM_001174147.2(LMX1B):c.140-3C>G
NM_001174147.2(LMX1B):c.140-5T>C
NM_001174147.2(LMX1B):c.157C>G (p.Pro53Ala) rs1228632022
NM_001174147.2(LMX1B):c.162C>T (p.Ala54=)
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) rs1588257904
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
NM_001174147.2(LMX1B):c.178C>T (p.Gln60Ter) rs2118823223
NM_001174147.2(LMX1B):c.182G>C (p.Arg61Pro) rs2118823251
NM_001174147.2(LMX1B):c.192C>G (p.Ser64=) rs746649113
NM_001174147.2(LMX1B):c.193G>T (p.Asp65Tyr)
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs) rs2118823366
NM_001174147.2(LMX1B):c.208C>T (p.Arg70Ter) rs2118823374
NM_001174147.2(LMX1B):c.209G>A (p.Arg70Gln)
NM_001174147.2(LMX1B):c.209del (p.Arg70fs)
NM_001174147.2(LMX1B):c.217G>C (p.Glu73Gln)
NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)
NM_001174147.2(LMX1B):c.217del (p.Glu73fs) rs2118823413
NM_001174147.2(LMX1B):c.221C>T (p.Ser74Leu) rs1835285052
NM_001174147.2(LMX1B):c.224C>G (p.Ser75Cys)
NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly) rs1057520783
NM_001174147.2(LMX1B):c.227G>A (p.Trp76Ter) rs886039574
NM_001174147.2(LMX1B):c.232G>A (p.Glu78Lys) rs1835285480
NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter) rs745711468
NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp) rs2118823518
NM_001174147.2(LMX1B):c.238T>C (p.Cys80Arg) rs2118823527
NM_001174147.2(LMX1B):c.242T>G (p.Leu81Trp) rs1835285672
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) rs121909489
NM_001174147.2(LMX1B):c.247T>C (p.Cys83Arg)
NM_001174147.2(LMX1B):c.249C>G (p.Cys83Trp)
NM_001174147.2(LMX1B):c.253G>T (p.Ala85Ser)
NM_001174147.2(LMX1B):c.255G>A (p.Ala85=) rs763085114
NM_001174147.2(LMX1B):c.255G>C (p.Ala85=)
NM_001174147.2(LMX1B):c.256T>A (p.Cys86Ser)
NM_001174147.2(LMX1B):c.257G>A (p.Cys86Tyr) rs1554721897
NM_001174147.2(LMX1B):c.257G>C (p.Cys86Ser)
NM_001174147.2(LMX1B):c.258T>A (p.Cys86Ter)
NM_001174147.2(LMX1B):c.259_304del (p.Gln87fs)
NM_001174147.2(LMX1B):c.262C>T (p.Gln88Ter)
NM_001174147.2(LMX1B):c.267C>A (p.Ala89=)
NM_001174147.2(LMX1B):c.271_272del (p.Thr91fs)
NM_001174147.2(LMX1B):c.273C>T (p.Thr91=)
NM_001174147.2(LMX1B):c.285C>G (p.Tyr95Ter) rs2118823701
NM_001174147.2(LMX1B):c.285_289del (p.Tyr95_Arg97delinsTer) rs1057520178
NM_001174147.2(LMX1B):c.289_291del (p.Arg97del) rs2118823763
NM_001174147.2(LMX1B):c.297del (p.Lys100fs) rs2118823819
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)
NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys) rs1564143881
NM_001174147.2(LMX1B):c.311A>G (p.Lys104Arg)
NM_001174147.2(LMX1B):c.317A>C (p.Asp106Ala)
NM_001174147.2(LMX1B):c.319T>G (p.Tyr107Asp)
NM_001174147.2(LMX1B):c.321C>G (p.Tyr107Ter) rs1835287345
NM_001174147.2(LMX1B):c.323_326+8del rs2118823917
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) rs1835287406
NM_001174147.2(LMX1B):c.326+14G>A
NM_001174147.2(LMX1B):c.326+16C>T
NM_001174147.2(LMX1B):c.326+178G>C rs945686
NM_001174147.2(LMX1B):c.326+1G>A
NM_001174147.2(LMX1B):c.326+1G>C rs1835287461
NM_001174147.2(LMX1B):c.327-2A>G rs2118986578
NM_001174147.2(LMX1B):c.327-4G>A rs147333150
NM_001174147.2(LMX1B):c.327-5C>T
NM_001174147.2(LMX1B):c.327-5_327-3dup rs376229612
NM_001174147.2(LMX1B):c.327-6C>T rs572751023
NM_001174147.2(LMX1B):c.330C>G (p.Leu110=)
NM_001174147.2(LMX1B):c.332del (p.Phe111fs) rs2118986608
NM_001174147.2(LMX1B):c.335C>T (p.Ala112Val)
NM_001174147.2(LMX1B):c.346_347insT (p.Ser116fs) rs2118986658
NM_001174147.2(LMX1B):c.348C>T (p.Ser116=)
NM_001174147.2(LMX1B):c.351_355dup (p.Met119fs) rs2118986709
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr) rs121909488
NM_001174147.2(LMX1B):c.369C>G (p.Ala123=)
NM_001174147.2(LMX1B):c.36G>T (p.Arg12Ser)
NM_001174147.2(LMX1B):c.372C>T (p.Pro124=)
NM_001174147.2(LMX1B):c.392C>T (p.Ala131Val)
NM_001174147.2(LMX1B):c.398_399dup (p.Cys134fs) rs2118986877
NM_001174147.2(LMX1B):c.403G>A (p.Val135Met)
NM_001174147.2(LMX1B):c.406T>A (p.Tyr136Asn) rs2030102298
NM_001174147.2(LMX1B):c.407_421del (p.Tyr136_Cys140del) rs2118986919
NM_001174147.2(LMX1B):c.408C>G (p.Tyr136Ter)
NM_001174147.2(LMX1B):c.409C>T (p.His137Tyr) rs2030102410
NM_001174147.2(LMX1B):c.419G>A (p.Cys140Tyr) rs2118986952
NM_001174147.2(LMX1B):c.419G>T (p.Cys140Phe) rs2118986952
NM_001174147.2(LMX1B):c.428G>A (p.Cys143Tyr)
NM_001174147.2(LMX1B):c.428G>C (p.Cys143Ser) rs2118986969
NM_001174147.2(LMX1B):c.42C>T (p.Phe14=)
NM_001174147.2(LMX1B):c.436T>C (p.Cys146Arg)
NM_001174147.2(LMX1B):c.437G>A (p.Cys146Tyr)
NM_001174147.2(LMX1B):c.442C>T (p.Arg148Trp)
NM_001174147.2(LMX1B):c.443G>A (p.Arg148Gln) rs748017457
NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter) rs2118987040
NM_001174147.2(LMX1B):c.448C>G (p.Leu150Val) rs2118987049
NM_001174147.2(LMX1B):c.451C>A (p.Arg151Ser)
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) rs149434820
NM_001174147.2(LMX1B):c.462C>T (p.Asp154=)
NM_001174147.2(LMX1B):c.465A>C (p.Glu155Asp)
NM_001174147.2(LMX1B):c.469G>A (p.Val157Met) rs767072869
NM_001174147.2(LMX1B):c.479_486del (p.Glu160fs)
NM_001174147.2(LMX1B):c.484C>T (p.Gln162Ter) rs2118987177
NM_001174147.2(LMX1B):c.491T>C (p.Leu164Pro)
NM_001174147.2(LMX1B):c.507C>G (p.Tyr169Ter)
NM_001174147.2(LMX1B):c.507C>T (p.Tyr169=)
NM_001174147.2(LMX1B):c.51G>A (p.Gly17=)
NM_001174147.2(LMX1B):c.522C>T (p.Asp174=) rs754713175
NM_001174147.2(LMX1B):c.544G>A (p.Asp182Asn)
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=) rs34434402
NM_001174147.2(LMX1B):c.553G>A (p.Asp185Asn)
NM_001174147.2(LMX1B):c.558C>T (p.Ser186=)
NM_001174147.2(LMX1B):c.559+24del rs542331709
NM_001174147.2(LMX1B):c.560-11G>T
NM_001174147.2(LMX1B):c.560-20C>T
NM_001174147.2(LMX1B):c.585C>T (p.Asp195=)
NM_001174147.2(LMX1B):c.587T>G (p.Met196Arg) rs1167579696
NM_001174147.2(LMX1B):c.58G>A (p.Asp20Asn)
NM_001174147.2(LMX1B):c.600_604dup (p.Gln202fs)
NM_001174147.2(LMX1B):c.60C>T (p.Asp20=)
NM_001174147.2(LMX1B):c.623del (p.Gly208fs) rs2118991726
NM_001174147.2(LMX1B):c.627C>G (p.Ser209Arg)
NM_001174147.2(LMX1B):c.627C>T (p.Ser209=)
NM_001174147.2(LMX1B):c.628G>A (p.Gly210Arg) rs754095270
NM_001174147.2(LMX1B):c.647C>T (p.Pro216Leu) rs779417752
NM_001174147.2(LMX1B):c.64G>A (p.Ala22Thr)
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter) rs121909487
NM_001174147.2(LMX1B):c.666C>T (p.Pro222=)
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
NM_001174147.2(LMX1B):c.667del (p.Arg223fs) rs1564169730
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_001174147.2(LMX1B):c.674T>G (p.Ile225Ser)
NM_001174147.2(LMX1B):c.676C>T (p.Leu226Phe)
NM_001174147.2(LMX1B):c.679_680del (p.Thr227fs)
NM_001174147.2(LMX1B):c.688C>A (p.Gln230Lys) rs2118991973
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) rs121909490
NM_001174147.2(LMX1B):c.702C>T (p.Phe234=)
NM_001174147.2(LMX1B):c.705G>C (p.Lys235Asn)
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.714C>T (p.Phe238=)
NM_001174147.2(LMX1B):c.722C>T (p.Ser241Leu)
NM_001174147.2(LMX1B):c.723G>C (p.Ser241=)
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=) rs368736494
NM_001174147.2(LMX1B):c.725C>T (p.Ser242Leu) rs1002033502
NM_001174147.2(LMX1B):c.731C>G (p.Pro244Arg) rs2118992203
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.739A>T (p.Lys247Ter) rs2118992231
NM_001174147.2(LMX1B):c.741+12C>A
NM_001174147.2(LMX1B):c.741+13C>T
NM_001174147.2(LMX1B):c.741+16G>T rs374894222
NM_001174147.2(LMX1B):c.741+19dup rs752786088
NM_001174147.2(LMX1B):c.741+1G>T rs1427331961
NM_001174147.2(LMX1B):c.741+8del rs779132103
NM_001174147.2(LMX1B):c.742-14T>C
NM_001174147.2(LMX1B):c.742-7_742-6delinsCT
NM_001174147.2(LMX1B):c.745C>A (p.Arg249=) rs121909492
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter) rs121909492
NM_001174147.2(LMX1B):c.746G>T (p.Arg249Leu)
NM_001174147.2(LMX1B):c.748G>T (p.Glu250Ter) rs2118992752
NM_001174147.2(LMX1B):c.750_751del (p.Glu250fs) rs2118992738
NM_001174147.2(LMX1B):c.768G>A (p.Thr256=)
NM_001174147.2(LMX1B):c.770G>T (p.Gly257Val) rs2118992774
NM_001174147.2(LMX1B):c.770dup (p.Leu258fs)
NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)
NM_001174147.2(LMX1B):c.781C>G (p.Arg261Gly) rs886039576
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001174147.2(LMX1B):c.782G>T (p.Arg261Leu) rs1161738395
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001174147.2(LMX1B):c.788T>C (p.Val263Ala)
NM_001174147.2(LMX1B):c.796T>G (p.Trp266Gly) rs1588307482
NM_001174147.2(LMX1B):c.801del (p.Gln268fs)
NM_001174147.2(LMX1B):c.803A>C (p.Gln268Pro) rs2118992851
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys) rs121909486
NM_001174147.2(LMX1B):c.807C>T (p.Asn269=)
NM_001174147.2(LMX1B):c.812G>C (p.Arg271Thr)
NM_001174147.2(LMX1B):c.819+11_819+30del rs747533344
NM_001174147.2(LMX1B):c.819+14C>T
NM_001174147.2(LMX1B):c.819+15C>A rs989131995
NM_001174147.2(LMX1B):c.819+16C>T
NM_001174147.2(LMX1B):c.819+17C>A rs745541136
NM_001174147.2(LMX1B):c.819+2T>G rs2118992878
NM_001174147.2(LMX1B):c.820-13G>A rs914683099
NM_001174147.2(LMX1B):c.820-13G>T rs914683099
NM_001174147.2(LMX1B):c.820-14C>A rs578206037
NM_001174147.2(LMX1B):c.820-14C>T
NM_001174147.2(LMX1B):c.820-15G>A rs2118993229
NM_001174147.2(LMX1B):c.820-15G>T rs2118993229
NM_001174147.2(LMX1B):c.820-18A>G
NM_001174147.2(LMX1B):c.820-1G>A
NM_001174147.2(LMX1B):c.82A>G (p.Ile28Val)
NM_001174147.2(LMX1B):c.844C>T (p.Gln282Ter) rs2118993320
NM_001174147.2(LMX1B):c.856G>A (p.Glu286Lys)
NM_001174147.2(LMX1B):c.867C>T (p.Asn289=) rs1490029797
NM_001174147.2(LMX1B):c.871C>T (p.Gln291Ter)
NM_001174147.2(LMX1B):c.875G>A (p.Arg292Gln) rs775625232
NM_001174147.2(LMX1B):c.875G>T (p.Arg292Leu)
NM_001174147.2(LMX1B):c.878T>G (p.Leu293Arg)
NM_001174147.2(LMX1B):c.879G>A (p.Leu293=) rs1388453714
NM_001174147.2(LMX1B):c.883C>A (p.Gln295Lys) rs2118993442
NM_001174147.2(LMX1B):c.886+13C>T
NM_001174147.2(LMX1B):c.886+14G>A
NM_001174147.2(LMX1B):c.886+26_886+64del rs762501399
NM_001174147.2(LMX1B):c.886+7_886+39del rs746256519
NM_001174147.2(LMX1B):c.886+7_886+39dup
NM_001174147.2(LMX1B):c.888G>T (p.Glu296Asp)
NM_001174147.2(LMX1B):c.901C>T (p.Arg301Cys) rs376497496
NM_001174147.2(LMX1B):c.904A>C (p.Met302Leu) rs1782032990
NM_001174147.2(LMX1B):c.914T>C (p.Met305Thr)
NM_001174147.2(LMX1B):c.915G>A (p.Met305Ile) rs2118997138
NM_001174147.2(LMX1B):c.933G>A (p.Pro311=)
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881
NM_001174147.2(LMX1B):c.945A>G (p.Pro315=)
NM_001174147.2(LMX1B):c.948G>T (p.Gln316His)
NM_001174147.2(LMX1B):c.963C>T (p.Ala321=)
NM_001174147.2(LMX1B):c.976C>G (p.Pro326Ala)

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