ClinVar Miner

List of variants in gene LIFR reported as uncertain significance for Stuve-Wiedemann syndrome

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Gene type:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.*6395T>C rs141407987 0.00474
NM_001127671.2(LIFR):c.*1474T>G rs567565130 0.00421
NM_001127671.2(LIFR):c.*5060T>A rs183333459 0.00406
NM_001127671.2(LIFR):c.*1540A>G rs547319835 0.00401
NM_001127671.2(LIFR):c.*3748T>C rs144332222 0.00305
NM_002310.6(LIFR):c.-129T>G rs55892837 0.00223
NM_001127671.2(LIFR):c.*6100G>A rs188682396 0.00145
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001127671.2(LIFR):c.*320C>T rs149357204 0.00114
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001127671.2(LIFR):c.*3449G>T rs147793103 0.00101
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) rs140538535 0.00097
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_001127671.2(LIFR):c.*4405G>C rs191397058 0.00066
NM_001127671.2(LIFR):c.*1779A>G rs533737306 0.00058
NM_001127671.2(LIFR):c.*2042A>G rs551424232 0.00057
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975 0.00056
NM_001127671.2(LIFR):c.*4024G>A rs140501581 0.00047
NM_001127671.2(LIFR):c.*4414G>A rs542094343 0.00045
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val) rs144606459 0.00042
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) rs61751711 0.00042
NM_001127671.2(LIFR):c.*5925C>A rs571064663 0.00032
NM_001127671.2(LIFR):c.*1859A>C rs772252918 0.00024
NM_001127671.2(LIFR):c.*1860T>G rs748353397 0.00024
NM_002310.6(LIFR):c.-90T>C rs559787973 0.00024
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00022
NM_001127671.2(LIFR):c.*984T>C rs558681338 0.00020
NM_001127671.2(LIFR):c.*2464C>G rs140583327 0.00019
NM_001127671.2(LIFR):c.*517T>C rs889691332 0.00019
NM_001127671.2(LIFR):c.*6380G>C rs963712767 0.00015
NM_001127671.2(LIFR):c.*4618T>C rs576106981 0.00014
NM_001127671.2(LIFR):c.562-12G>A rs551186831 0.00014
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_001127671.2(LIFR):c.*393G>T rs779132960 0.00012
NM_001127671.2(LIFR):c.*5004A>G rs758275090 0.00012
NM_002310.6(LIFR):c.-139G>A rs373489850 0.00012
NM_001127671.2(LIFR):c.*1198C>T rs775264074 0.00011
NM_001127671.2(LIFR):c.*2697A>G rs886060617 0.00011
NM_001127671.2(LIFR):c.*3375A>G rs778888227 0.00011
NM_001127671.2(LIFR):c.*1302T>G rs886060621 0.00010
NM_001127671.2(LIFR):c.*368A>C rs886060625 0.00010
NM_001127671.2(LIFR):c.*6248C>G rs560182899 0.00010
NM_001127671.2(LIFR):c.*1086A>C rs567657966 0.00009
NM_001127671.2(LIFR):c.*262A>G rs763998777 0.00009
NM_001127671.2(LIFR):c.*3182G>A rs758192947 0.00009
NM_001127671.2(LIFR):c.*3470G>T rs886467983 0.00009
NM_001127671.2(LIFR):c.*443C>T rs1011411405 0.00009
NM_001127671.2(LIFR):c.*4801A>G rs555849365 0.00009
NM_001127671.2(LIFR):c.*657C>T rs938116389 0.00009
NM_002310.6(LIFR):c.-118G>A rs573436558 0.00009
NM_001127671.2(LIFR):c.*2611C>T rs905926604 0.00007
NM_001127671.2(LIFR):c.*4346G>A rs184642499 0.00007
NM_001127671.2(LIFR):c.*4841G>A rs1307069696 0.00007
NM_001127671.2(LIFR):c.1338A>G (p.Ser446=) rs770514781 0.00007
NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile) rs760903325 0.00007
NM_001127671.2(LIFR):c.*10C>T rs764112814 0.00006
NM_001127671.2(LIFR):c.*5107A>G rs1035465616 0.00006
NM_001127671.2(LIFR):c.*5184G>A rs886060609 0.00006
NM_001127671.2(LIFR):c.*933G>A rs578231637 0.00006
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717 0.00006
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala) rs764878525 0.00006
NM_001127671.2(LIFR):c.*1968A>C rs759458908 0.00005
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) rs199637361 0.00005
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) rs373421600 0.00004
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln) rs202048083 0.00004
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) rs994405607 0.00004
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189 0.00004
NM_001127671.2(LIFR):c.*1643G>A rs1009323722 0.00003
NM_001127671.2(LIFR):c.*212T>C rs1350790157 0.00003
NM_001127671.2(LIFR):c.*2476G>T rs555848744 0.00003
NM_001127671.2(LIFR):c.*2746T>A rs1290128552 0.00003
NM_001127671.2(LIFR):c.*3753G>C rs1432917321 0.00003
NM_001127671.2(LIFR):c.*6226A>G rs1274222770 0.00003
NM_001127671.2(LIFR):c.*6564C>T rs566612340 0.00003
NM_001127671.2(LIFR):c.*972C>T rs1368133920 0.00003
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083 0.00003
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542 0.00003
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser) rs199505838 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732 0.00003
NM_001127671.2(LIFR):c.*1051C>T rs189674684 0.00002
NM_001127671.2(LIFR):c.*1468T>G rs886060620 0.00002
NM_001127671.2(LIFR):c.*4020T>G rs968785250 0.00002
NM_001127671.2(LIFR):c.*4735C>A rs201856141 0.00002
NM_001127671.2(LIFR):c.*5667T>C rs886060607 0.00002
NM_001127671.2(LIFR):c.*6041_*6042insTTA rs542021288 0.00002
NM_001127671.2(LIFR):c.*648C>G rs886060624 0.00002
NM_001127671.2(LIFR):c.*966T>G rs886060623 0.00002
NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu) rs763060076 0.00002
NM_001127671.2(LIFR):c.16G>A (p.Val6Ile) rs373771721 0.00002
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323 0.00002
NM_001127671.2(LIFR):c.2692T>C (p.Leu898=) rs890810298 0.00002
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.3279C>T (p.Asn1093=) rs754371834 0.00002
NM_002310.6(LIFR):c.-28G>A rs886060632 0.00002
NM_001127671.2(LIFR):c.*2437A>G rs925267459 0.00001
NM_001127671.2(LIFR):c.*2585T>A rs1284035304 0.00001
NM_001127671.2(LIFR):c.*2825G>A rs952292818 0.00001
NM_001127671.2(LIFR):c.*3085G>T rs552475268 0.00001
NM_001127671.2(LIFR):c.*3162T>G rs1743825125 0.00001
NM_001127671.2(LIFR):c.*3563T>C rs1219109807 0.00001
NM_001127671.2(LIFR):c.*3852C>G rs1238336955 0.00001
NM_001127671.2(LIFR):c.*415A>G rs1579990996 0.00001
NM_001127671.2(LIFR):c.*4264T>G rs886060615 0.00001
NM_001127671.2(LIFR):c.*4438A>G rs886060613 0.00001
NM_001127671.2(LIFR):c.*4799A>G rs1392993911 0.00001
NM_001127671.2(LIFR):c.*5421A>G rs1393635624 0.00001
NM_001127671.2(LIFR):c.*6483C>A rs771210595 0.00001
NM_001127671.2(LIFR):c.*987C>T rs886060622 0.00001
NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn) rs753566378 0.00001
NM_001127671.2(LIFR):c.1194A>G (p.Gln398=) rs1192463698 0.00001
NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile) rs764228036 0.00001
NM_001127671.2(LIFR):c.1439G>A (p.Arg480Gln) rs781727104 0.00001
NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp) rs769058491 0.00001
NM_001127671.2(LIFR):c.1776C>G (p.His592Gln) rs762360996 0.00001
NM_001127671.2(LIFR):c.2001G>A (p.Ser667=) rs1195064309 0.00001
NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser) rs767530602 0.00001
NM_001127671.2(LIFR):c.2066-14T>C rs749796645 0.00001
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692 0.00001
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) rs746744753 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123 0.00001
NM_001127671.2(LIFR):c.*1291G>A rs767087396
NM_001127671.2(LIFR):c.*1464dup rs560124949
NM_001127671.2(LIFR):c.*1854C>T rs886060619
NM_001127671.2(LIFR):c.*1855A>T rs886060618
NM_001127671.2(LIFR):c.*1952A>G rs558503590
NM_001127671.2(LIFR):c.*1972C>T rs1227741988
NM_001127671.2(LIFR):c.*2138dup rs141563662
NM_001127671.2(LIFR):c.*2360A>C rs1461084870
NM_001127671.2(LIFR):c.*2910G>A rs368109984
NM_001127671.2(LIFR):c.*2981TATTT[1] rs540513218
NM_001127671.2(LIFR):c.*3074A>G rs2112340433
NM_001127671.2(LIFR):c.*3163T>A rs142495539
NM_001127671.2(LIFR):c.*3163T>C rs142495539
NM_001127671.2(LIFR):c.*3302T>C rs868197411
NM_001127671.2(LIFR):c.*3302T>G rs868197411
NM_001127671.2(LIFR):c.*3850T>G rs886060616
NM_001127671.2(LIFR):c.*4417A>G rs886060614
NM_001127671.2(LIFR):c.*4428T>C rs10056657
NM_001127671.2(LIFR):c.*4926_*4927del rs764162435
NM_001127671.2(LIFR):c.*4927del rs764162435
NM_001127671.2(LIFR):c.*5017A>G rs886060610
NM_001127671.2(LIFR):c.*5206A>G rs1347465930
NM_001127671.2(LIFR):c.*5542G>A rs886060608
NM_001127671.2(LIFR):c.*5768A>C rs886060606
NM_001127671.2(LIFR):c.*5793C>G rs556240742
NM_001127671.2(LIFR):c.*5796A>C rs886060605
NM_001127671.2(LIFR):c.*5986T>C rs886060604
NM_001127671.2(LIFR):c.*6386A>G rs2112328487
NM_001127671.2(LIFR):c.*6491A>G rs2112328232
NM_001127671.2(LIFR):c.*9C>A rs1743984823
NM_001127671.2(LIFR):c.-19-10C>T rs775849083
NM_001127671.2(LIFR):c.-19G>C rs2112571693
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=) rs1424683209
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly) rs121912501
NM_001127671.2(LIFR):c.183A>C (p.Gln61His) rs1243202901
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys) rs1744714439
NM_001127671.2(LIFR):c.2262C>A (p.Gly754=) rs886060630
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val) rs769684275
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) rs886060629
NM_001127671.2(LIFR):c.2750T>A (p.Phe917Tyr) rs886060628
NM_001127671.2(LIFR):c.2852C>T (p.Pro951Leu) rs886060627
NM_001127671.2(LIFR):c.3082T>A (p.Tyr1028Asn) rs886060626
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) rs1745754747
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) rs2112493238
NM_001127671.2(LIFR):c.935C>A (p.Thr312Lys) rs886060631
NM_001127671.2(LIFR):c.991+10T>C rs2112491503
NM_001127671.2(LIFR):c.992-8dup rs773048780
NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu) rs746821182

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