ClinVar Miner

List of variants in gene LMX1B

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 574
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.*2393T>C rs10120414 0.90738
NM_001174147.2(LMX1B):c.*2184A>G rs10733682 0.55594
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.*2394G>C rs10760451 0.44883
NM_001174147.2(LMX1B):c.*4171T>C rs3814119 0.44770
NM_001174147.2(LMX1B):c.*3864T>C rs10987419 0.42825
NM_001174147.2(LMX1B):c.*3833A>G rs10987418 0.42749
NM_001174147.2(LMX1B):c.*3771G>T rs10987417 0.41745
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_001174147.2(LMX1B):c.*3957C>A rs10987422 0.41441
NM_001174147.2(LMX1B):c.*1582A>G rs10987415 0.39164
NM_001174147.2(LMX1B):c.326+7G>C rs1336980 0.28269
NM_001174147.2(LMX1B):c.*1389T>G rs13300385 0.28012
NM_001174147.2(LMX1B):c.*3182A>G rs3861878 0.27278
NM_001174147.2(LMX1B):c.*2984C>T rs4083644 0.26400
NM_001174147.2(LMX1B):c.*3342T>C rs4083645 0.25994
NM_001174147.2(LMX1B):c.140-266A>G rs2235057 0.25849
NM_001174147.2(LMX1B):c.*748C>T rs10987414 0.25765
NM_001174147.2(LMX1B):c.*584C>T rs34200683 0.24353
NM_001174147.2(LMX1B):c.*1666C>T rs10987416 0.23942
NM_001174147.2(LMX1B):c.*708G>A rs10987413 0.22906
NM_001174147.2(LMX1B):c.*3346G>A rs7023938 0.21957
NM_001174147.2(LMX1B):c.887-26G>T rs3737048 0.20498
NM_001174147.2(LMX1B):c.*1255A>G rs16929236 0.18589
NM_001174147.2(LMX1B):c.*932G>T rs28687510 0.18581
NM_001174147.2(LMX1B):c.*1992T>C rs34776870 0.15317
NM_001174147.2(LMX1B):c.*1997G>A rs35632228 0.15118
NM_001174147.2(LMX1B):c.*898C>T rs10760450 0.14051
NM_001174147.2(LMX1B):c.*1473G>A rs13299609 0.11304
NM_001174147.2(LMX1B):c.*1393G>T rs13299451 0.10883
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.*451C>T rs71497630 0.10571
NM_001174147.2(LMX1B):c.*51A>G rs10121481 0.08863
NM_001174147.2(LMX1B):c.*3881G>T rs10987421 0.08782
NM_001174147.2(LMX1B):c.*3865G>A rs10987420 0.08771
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.*1304G>A rs73596779 0.06258
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.*1716A>G rs116411474 0.02725
NM_001174147.2(LMX1B):c.*1106_*1107del rs201556524 0.02138
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.*2345G>A rs74429080 0.01611
NM_001174147.2(LMX1B):c.*127C>T rs113846301 0.01560
NM_001174147.2(LMX1B):c.*1574G>T rs148173186 0.01517
NM_001174147.2(LMX1B):c.*1995C>G rs74498940 0.01310
NM_001174147.2(LMX1B):c.560-28A>C rs111456523 0.01243
NM_001174147.2(LMX1B):c.*515A>G rs112375232 0.01060
NM_001174147.2(LMX1B):c.*280G>A rs111648919 0.01052
NM_001174147.2(LMX1B):c.*1644C>G rs187256465 0.01022
NM_001174147.2(LMX1B):c.*1604A>G rs146126278 0.00995
NM_001174147.2(LMX1B):c.*4373A>G rs78565800 0.00792
NM_001174147.2(LMX1B):c.*1538C>G rs144857145 0.00770
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.*173G>A rs181701033 0.00529
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.*4288G>A rs150407176 0.00469
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.*884G>A rs146268507 0.00255
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00104
NM_001174147.2(LMX1B):c.*438G>C rs140325479 0.00095
NM_001174147.2(LMX1B):c.295C>A (p.Arg99=) rs141391682 0.00093
NM_001174147.2(LMX1B):c.*38G>A rs201442685 0.00080
NM_001174147.2(LMX1B):c.*950G>C rs568763153 0.00080
NM_001174147.2(LMX1B):c.*3731G>C rs566004764 0.00063
NM_001174147.2(LMX1B):c.*4206G>A rs762728003 0.00059
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.*1754C>T rs886063434 0.00050
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_001174147.2(LMX1B):c.*4012C>T rs576424682 0.00046
NM_001174147.2(LMX1B):c.*128G>A rs540930895 0.00045
NM_001174147.2(LMX1B):c.*3891G>A rs534775990 0.00044
NM_001174147.2(LMX1B):c.*3235C>T rs908803074 0.00031
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_001174147.2(LMX1B):c.*3719G>A rs765341524 0.00028
NM_001174147.2(LMX1B):c.*1063T>A rs551202501 0.00026
NM_001174147.2(LMX1B):c.*3338C>G rs565879113 0.00026
NM_001174147.2(LMX1B):c.327-17G>A rs372620265 0.00026
NM_001174147.2(LMX1B):c.*355G>T rs886063422 0.00024
NM_001174147.2(LMX1B):c.*4129C>T rs148294658 0.00024
NM_001174147.2(LMX1B):c.*13C>T rs375458623 0.00021
NM_001174147.2(LMX1B):c.*2023C>T rs574903734 0.00016
NM_001174147.2(LMX1B):c.*4123C>T rs906873628 0.00016
NM_001174147.2(LMX1B):c.*574C>T rs765510482 0.00016
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=) rs146476348 0.00016
NM_001174147.2(LMX1B):c.*2966G>A rs191951894 0.00015
NM_001174147.2(LMX1B):c.*2160C>T rs145937520 0.00014
NM_001174147.2(LMX1B):c.*3713G>A rs1015713642 0.00014
NM_001174147.2(LMX1B):c.*547C>T rs886063423 0.00014
NM_001174147.2(LMX1B):c.886+8G>A rs774459476 0.00012
NM_001174147.2(LMX1B):c.*446G>T rs894019334 0.00011
NM_001174147.2(LMX1B):c.*551C>A rs762152428 0.00011
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=) rs775705878 0.00011
NM_001174147.2(LMX1B):c.*4477C>T rs778454522 0.00010
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=) rs536687637 0.00010
NM_001174147.2(LMX1B):c.*1511G>A rs547510293 0.00009
NM_001174147.2(LMX1B):c.*2739C>A rs145602359 0.00009
NM_001174147.2(LMX1B):c.*90C>T rs747815548 0.00009
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.*2511C>T rs868840331 0.00008
NM_001174147.2(LMX1B):c.*3804C>T rs558013035 0.00008
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.*155G>A rs151191848 0.00007
NM_001174147.2(LMX1B):c.*3404G>A rs754688626 0.00007
NM_001174147.2(LMX1B):c.*4050C>A rs776459298 0.00007
NM_001174147.2(LMX1B):c.130G>A (p.Val44Met) rs1017526258 0.00007
NM_001174147.2(LMX1B):c.*1676G>A rs886063431 0.00006
NM_001174147.2(LMX1B):c.*230C>T rs531744651 0.00006
NM_001174147.2(LMX1B):c.*2620G>A rs950531780 0.00006
NM_001174147.2(LMX1B):c.*3385C>A rs886063440 0.00006
NM_001174147.2(LMX1B):c.*4157C>T rs185290341 0.00006
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.*18G>A rs755294493 0.00005
NM_001174147.2(LMX1B):c.*4466C>A rs918457009 0.00005
NM_001174147.2(LMX1B):c.*44G>T rs773048475 0.00005
NM_001174147.2(LMX1B):c.1116C>T (p.Phe372=) rs750636039 0.00005
NM_001174147.2(LMX1B):c.742-6A>T rs554576629 0.00005
NM_001174147.2(LMX1B):c.742-7G>C rs534963836 0.00005
NM_001174147.2(LMX1B):c.*1266T>G rs558658509 0.00004
NM_001174147.2(LMX1B):c.*1287A>T rs572241075 0.00004
NM_001174147.2(LMX1B):c.*3464G>A rs920113788 0.00004
NM_001174147.2(LMX1B):c.*3765A>C rs886063444 0.00004
NM_001174147.2(LMX1B):c.*681C>T rs138360048 0.00004
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.*3098A>G rs749654121 0.00003
NM_001174147.2(LMX1B):c.*3805G>A rs886063445 0.00003
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.*1189C>T rs918993617 0.00002
NM_001174147.2(LMX1B):c.*232C>T rs551852198 0.00002
NM_001174147.2(LMX1B):c.*2737C>T rs767564570 0.00002
NM_001174147.2(LMX1B):c.*317G>A rs1298736368 0.00002
NM_001174147.2(LMX1B):c.*3522G>A rs886063442 0.00002
NM_001174147.2(LMX1B):c.*4128G>A rs886063447 0.00002
NM_001174147.2(LMX1B):c.*553C>T rs1279736588 0.00002
NM_001174147.2(LMX1B):c.*635A>G rs1443082300 0.00002
NM_001174147.2(LMX1B):c.*999C>G rs919370292 0.00002
NM_001174147.2(LMX1B):c.1011C>T (p.Leu337=) rs1001731463 0.00002
NM_001174147.2(LMX1B):c.1151G>A (p.Arg384His) rs143906016 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.741+14G>A rs527313096 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.*1493C>T rs908912434 0.00001
NM_001174147.2(LMX1B):c.*1713C>T rs886063432 0.00001
NM_001174147.2(LMX1B):c.*1899G>A rs756806649 0.00001
NM_001174147.2(LMX1B):c.*286C>T rs1050105993 0.00001
NM_001174147.2(LMX1B):c.*3196G>A rs1386261176 0.00001
NM_001174147.2(LMX1B):c.*3379C>T rs886063439 0.00001
NM_001174147.2(LMX1B):c.*3642G>T rs886063443 0.00001
NM_001174147.2(LMX1B):c.*401G>A rs548738973 0.00001
NM_001174147.2(LMX1B):c.*4338G>C rs1035726771 0.00001
NM_001174147.2(LMX1B):c.*4570A>G rs886063449 0.00001
NM_001174147.2(LMX1B):c.-12G>T rs563572406 0.00001
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.1078G>A (p.Asp360Asn) rs772632723 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.115C>T (p.Pro39Ser) rs771784052 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.520G>A (p.Asp174Asn) rs1766593692 0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) rs181422024 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(chr9:129376720-129463802)
GRCh37/hg19 9q33.3(chr9:129407543-129422451)x1
GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh38/hg38 9q33.3(chr9:126688184-126693311)x3
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.*105C>G rs953659561
NM_001174147.2(LMX1B):c.*1115T>A rs886063425
NM_001174147.2(LMX1B):c.*1164A>T rs2030387692
NM_001174147.2(LMX1B):c.*1387TGTTT[10] rs59836255
NM_001174147.2(LMX1B):c.*1387TGTTT[12] rs59836255
NM_001174147.2(LMX1B):c.*1387TGTTT[8] rs59836255
NM_001174147.2(LMX1B):c.*1389_*1398delinsGTTTT rs886063427
NM_001174147.2(LMX1B):c.*1389_*1408delinsGTTTT rs886063428
NM_001174147.2(LMX1B):c.*1531T>G rs886063429
NM_001174147.2(LMX1B):c.*1542A>G rs886063430
NM_001174147.2(LMX1B):c.*1612C>T rs767599284
NM_001174147.2(LMX1B):c.*1673C>G rs191584459
NM_001174147.2(LMX1B):c.*1703C>T rs144070517
NM_001174147.2(LMX1B):c.*172C>A rs574095852
NM_001174147.2(LMX1B):c.*1737T>C rs886063433
NM_001174147.2(LMX1B):c.*17C>T rs754093597
NM_001174147.2(LMX1B):c.*1935G>A rs886063435
NM_001174147.2(LMX1B):c.*2062C>A rs1453922739
NM_001174147.2(LMX1B):c.*2344C>T rs983206651
NM_001174147.2(LMX1B):c.*2456CTT[1] rs886063436
NM_001174147.2(LMX1B):c.*253C>T rs748844195
NM_001174147.2(LMX1B):c.*2590_*2591del rs398069012
NM_001174147.2(LMX1B):c.*2612T>C rs886063437
NM_001174147.2(LMX1B):c.*277C>T rs886063421
NM_001174147.2(LMX1B):c.*2831C>T rs148906444
NM_001174147.2(LMX1B):c.*3021T>G rs886063438
NM_001174147.2(LMX1B):c.*3052T>C rs2030467754
NM_001174147.2(LMX1B):c.*3274T>G rs539927124
NM_001174147.2(LMX1B):c.*3335A>G rs2030478207
NM_001174147.2(LMX1B):c.*3346G>T rs7023938
NM_001174147.2(LMX1B):c.*3400G>A rs886063441
NM_001174147.2(LMX1B):c.*3403C>G rs776860982
NM_001174147.2(LMX1B):c.*3799G>T rs2030493794
NM_001174147.2(LMX1B):c.*3908T>C rs886063446
NM_001174147.2(LMX1B):c.*4127C>T rs146636393
NM_001174147.2(LMX1B):c.*4303T>C rs545179114
NM_001174147.2(LMX1B):c.*4303T>G rs545179114
NM_001174147.2(LMX1B):c.*4331T>C rs886063448
NM_001174147.2(LMX1B):c.*4568C>A rs539011309
NM_001174147.2(LMX1B):c.*4568C>T rs539011309
NM_001174147.2(LMX1B):c.*575G>T rs549542139
NM_001174147.2(LMX1B):c.*59C>T rs886063420
NM_001174147.2(LMX1B):c.*634CA[3] rs147813553
NM_001174147.2(LMX1B):c.*745G>A rs2030369522
NM_001174147.2(LMX1B):c.*764A>C rs897459902
NM_001174147.2(LMX1B):c.1002G>T (p.Gln334His) rs1469503021
NM_001174147.2(LMX1B):c.1007G>A (p.Gly336Asp)
NM_001174147.2(LMX1B):c.1019C>T (p.Pro340Leu)
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>A rs886063419
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.1085A>T (p.Asp362Val)
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.115C>G (p.Pro39Ala)
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.140-37_140-21del
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.176G>T (p.Cys59Phe) rs1554721879
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.184C>T (p.Pro62Ser)
NM_001174147.2(LMX1B):c.192C>G (p.Ser64=) rs746649113
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs) rs1057516196
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>A (p.Ser74Ter)
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.232G>T (p.Glu78Ter)
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>A (p.Ala85Thr) rs1289892661
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.259C>T (p.Gln87Ter)
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.306C>G (p.Tyr102Ter) rs864621969
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.319_320dup (p.Gln108fs) rs2118823895
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.327-1G>A
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.340A>T (p.Lys114Ter)
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.353G>T (p.Cys118Phe) 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.373A>G (p.Thr125Ala)
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.422_430del (p.Phe141_Cys143del) rs2118986948
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.534C>T (p.Ser178=)
NM_001174147.2(LMX1B):c.539G>A (p.Ser180Asn)
NM_001174147.2(LMX1B):c.543del (p.Asp182fs) rs1114167362
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.597_598dup (p.Lys200fs)
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.628G>C (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.668G>C (p.Arg223Pro)
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.683C>A (p.Thr228Lys)
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.709T>C (p.Ser237Pro) rs1588307152
NM_001174147.2(LMX1B):c.712_714del (p.Phe238del) rs1554728691
NM_001174147.2(LMX1B):c.714C>T (p.Phe238=)
NM_001174147.2(LMX1B):c.722C>T (p.Ser241Leu)
NM_001174147.2(LMX1B):c.722del (p.Ser241fs)
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.737G>C (p.Arg246Pro) 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>A rs1427331961
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>G (p.Arg249Gly) rs121909492
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter) rs121909492
NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) rs1056252582
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.766dup (p.Thr256fs)
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.783dup (p.Val262fs) rs1588307460
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001174147.2(LMX1B):c.788T>C (p.Val263Ala)
NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu) rs1588307477
NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe) rs1588307477
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) rs1588307482
NM_001174147.2(LMX1B):c.796T>G (p.Trp266Gly) rs1588307482
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) rs2030220818
NM_001174147.2(LMX1B):c.801del (p.Gln268fs)
NM_001174147.2(LMX1B):c.803A>C (p.Gln268Pro) rs2118992851
NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del) rs1588307486
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+1G>A rs1588307501
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.844del (p.Gln282fs)
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+17G>T
NM_001174147.2(LMX1B):c.886+26_886+64del rs762501399
NM_001174147.2(LMX1B):c.886+36G>A
NM_001174147.2(LMX1B):c.886+38G>A
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.917_926del (p.Met306fs) rs1588309269
NM_001174147.2(LMX1B):c.924del (p.Tyr309fs) rs1588309277
NM_001174147.2(LMX1B):c.932del (p.Pro311fs) rs1588309293
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>A (p.Gln316=) rs779948246
NM_001174147.2(LMX1B):c.948G>T (p.Gln316His)
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)
NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys) rs748676035
NM_001174147.2(LMX1B):c.963C>T (p.Ala321=)
NM_001174147.2(LMX1B):c.971A>G (p.Gln324Arg)
NM_001174147.2(LMX1B):c.976C>G (p.Pro326Ala)
NM_001174147.2(LMX1B):c.982G>A (p.Gly328Ser)
NM_001174147.2(LMX1B):c.990C>T (p.Ser330=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.