ClinVar Miner

List of variants studied for nail-patella syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
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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.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.*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.*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.*1393G>T rs13299451 0.12409
NM_001174147.2(LMX1B):c.*1473G>A rs13299609 0.11304
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.*27G>A rs10115373 0.06554
NM_001174147.2(LMX1B):c.*1304G>A rs73596779 0.06258
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.*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.*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.*173G>A rs181701033 0.00529
NM_001174147.2(LMX1B):c.*4288G>A rs150407176 0.00469
NM_001174147.2(LMX1B):c.*3716C>G rs147614955 0.00324
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.*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.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.*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.*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.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.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.*3098A>G rs749654121 0.00003
NM_001174147.2(LMX1B):c.*3805G>A rs886063445 0.00003
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=) rs142488434 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.1151G>A (p.Arg384His) rs143906016 0.00002
NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys) rs199738980 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.*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.1052-19C>T rs770215617 0.00001
NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn) rs772632723 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.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
GRCh37/hg19 9q33.3(chr9:129376720-129463802)
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1
NC_000009.12:g.(126507040_126613928)_(126701032_126804072)del
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.1051+2T>C
NM_001174147.2(LMX1B):c.1052-5C>A rs886063419
NM_001174147.2(LMX1B):c.1100G>A (p.Ser367Asn)
NM_001174147.2(LMX1B):c.1107C>T (p.Ser369=) rs10115304
NM_001174147.2(LMX1B):c.139+5G>C rs1114167421
NM_001174147.2(LMX1B):c.140-37_140-21del
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) rs1588257904
NM_001174147.2(LMX1B):c.176G>T (p.Cys59Phe) rs1554721879
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs) rs1057516196
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs) rs2118823366
NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp) rs2118823518
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) rs121909489
NM_001174147.2(LMX1B):c.253G>A (p.Ala85Thr) rs1289892661
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)
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.325C>T (p.Gln109Ter) rs1835287406
NM_001174147.2(LMX1B):c.327-6C>T rs572751023
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.422_430del (p.Phe141_Cys143del) rs2118986948
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) rs149434820
NM_001174147.2(LMX1B):c.543del (p.Asp182fs) rs1114167362
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=) rs34434402
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.661C>T (p.Arg221Ter) rs121909487
NM_001174147.2(LMX1B):c.667del (p.Arg223fs) rs1564169730
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) rs121909490
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.722del (p.Ser241fs)
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=) rs368736494
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.741+1G>A rs1427331961
NM_001174147.2(LMX1B):c.741+1G>T rs1427331961
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.755T>A (p.Leu252Gln)
NM_001174147.2(LMX1B):c.766dup (p.Thr256fs)
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001174147.2(LMX1B):c.783dup (p.Val262fs) rs1588307460
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
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.797G>C (p.Trp266Ser) rs2030220818
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.819+1G>A rs1588307501
NM_001174147.2(LMX1B):c.820-13G>A rs914683099
NM_001174147.2(LMX1B):c.886+36G>A
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>T (p.Pro311=) rs145052881
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)
NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys) rs748676035

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