ClinVar Miner

List of variants studied for Stuve-Wiedemann syndrome

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Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.*362G>A rs1005017 0.70336
NM_001127671.2(LIFR):c.397+29A>C rs2289779 0.37791
NM_001127671.2(LIFR):c.*1470T>G rs13156520 0.30679
NM_001127671.2(LIFR):c.*5670A>G rs3822425 0.30662
NM_001127671.2(LIFR):c.*6190C>T rs1046224 0.30641
NM_001127671.2(LIFR):c.*3834C>G rs34130318 0.30347
NM_001127671.2(LIFR):c.561+216A>G rs1822815 0.30148
NM_001127671.2(LIFR):c.1292-80T>A rs16903989 0.29875
NM_001127671.2(LIFR):c.*5169T>A rs3822426 0.18293
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NM_001127671.2(LIFR):c.2167+21T>C rs3110971 0.17819
NM_001127671.2(LIFR):c.*586A>T rs2561819 0.10855
NM_001127671.2(LIFR):c.*4854A>G rs35853268 0.06740
NM_001127671.2(LIFR):c.*5356A>G rs7713531 0.04455
NM_001127671.2(LIFR):c.*6640dup rs57386567 0.04372
NM_001127671.2(LIFR):c.143-60A>G rs62355821 0.04013
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_001127671.2(LIFR):c.*5225C>T rs58755763 0.03718
NM_001127671.2(LIFR):c.*4243A>G rs73749255 0.03708
NM_001127671.2(LIFR):c.991+80G>T rs6451387 0.03281
NM_001127671.2(LIFR):c.*1554C>G rs1428604 0.02039
NM_001127671.2(LIFR):c.*4804C>T rs55917124 0.01942
NM_001127671.2(LIFR):c.*426G>A rs116625329 0.01616
NM_001127671.2(LIFR):c.*988G>A rs3776425 0.01550
NM_001127671.2(LIFR):c.*4056G>T rs73077449 0.01539
NM_001127671.2(LIFR):c.2066-74T>G rs113874922 0.01368
NM_001127671.2(LIFR):c.*6316C>T rs115572283 0.01333
NM_001127671.2(LIFR):c.*1610T>G rs2731964 0.01049
NM_001127671.2(LIFR):c.*1484A>G rs75368466 0.00893
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001127671.2(LIFR):c.*394C>A rs115958115 0.00870
NM_001127671.2(LIFR):c.*546A>C rs3822427 0.00868
NM_001127671.2(LIFR):c.*1870G>A rs60287085 0.00865
NM_001127671.2(LIFR):c.*1459T>G rs75965322 0.00858
NM_001127671.2(LIFR):c.*324G>A rs3797156 0.00855
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) rs3729740 0.00852
NM_001127671.2(LIFR):c.*1005A>G rs3776424 0.00851
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_001127671.2(LIFR):c.*6140C>G rs73077446 0.00501
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00501
NM_001127671.2(LIFR):c.*5634T>C rs149932478 0.00490
NM_002310.6(LIFR):c.-20+294A>T rs186528221 0.00479
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.954C>T (p.Thr318=) rs61748202 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.789A>G (p.Val263=) rs141925289 0.00321
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001127671.2(LIFR):c.*3748T>C rs144332222 0.00305
NM_001127671.2(LIFR):c.*2570G>C rs113730751 0.00296
NM_001127671.2(LIFR):c.*2567G>A rs112458059 0.00295
NM_001127671.2(LIFR):c.*5125C>T rs147202739 0.00270
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_001127671.2(LIFR):c.*398C>G rs138772371 0.00240
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.3039G>C (p.Val1013=) rs754819659 0.00068
NM_001127671.2(LIFR):c.*4405G>C rs191397058 0.00066
NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp) rs146205670 0.00066
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) rs143808825 0.00064
NM_001127671.2(LIFR):c.*2712C>T rs547688841 0.00063
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.3087A>G (p.Arg1029=) rs138418444 0.00055
NM_001127671.2(LIFR):c.*1840C>G rs190209875 0.00053
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.3221A>G (p.Asp1074Gly) rs147058538 0.00029
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.*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.774T>C (p.Asp258=) rs761633332 0.00016
NM_001127671.2(LIFR):c.*6380G>C rs963712767 0.00015
NM_001127671.2(LIFR):c.143-39C>G rs62355820 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.2280G>A (p.Leu760=) rs370455274 0.00010
NM_001127671.2(LIFR):c.2886C>T (p.Ala962=) rs775970749 0.00010
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 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_001127671.2(LIFR):c.2591+6A>T rs372291945 0.00009
NM_002310.6(LIFR):c.-118G>A rs573436558 0.00009
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) rs200521119 0.00008
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=) rs749085598 0.00008
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.*3851T>A rs78474283 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.147T>G (p.Ala49=) rs879807300 0.00005
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) rs199637361 0.00005
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=) rs779533679 0.00005
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=) rs769294023 0.00004
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.1974C>T (p.Val658=) rs762685098 0.00004
NM_001127671.2(LIFR):c.2217G>A (p.Ser739=) rs747295716 0.00004
NM_001127671.2(LIFR):c.2497+14T>G rs541984532 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.1221T>C (p.Asn407=) rs372077841 0.00003
NM_001127671.2(LIFR):c.15C>T (p.Tyr5=) rs778287994 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.2074C>T (p.Arg692Ter) rs199775294 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_001127671.2(LIFR):c.552C>T (p.Leu184=) rs370454146 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.1252C>T (p.Arg418Ter) rs765622323 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.1789C>T (p.Arg597Ter) rs121912501 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.2170C>G (p.Pro724Ala) rs863225047 0.00001
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692 0.00001
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) rs1744257909 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
NC_000005.10:g.55247753A>G rs1579734448
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.*3330C>A rs148827994
NM_001127671.2(LIFR):c.*3639_*3640del rs796517933
NM_001127671.2(LIFR):c.*3850T>G rs886060616
NM_001127671.2(LIFR):c.*4154A>G rs73077448
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.*5072dup rs34579169
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.1365A>G (p.Leu455=) rs1204654428
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.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.143-5_143-3del rs778581246
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=) rs1424683209
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) rs1561179853
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.2013dup (p.Met672fs) rs1430793861
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys) rs1744714439
NM_001127671.2(LIFR):c.2168-1G>A rs2112393633
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.2434C>T (p.Arg812Ter) rs756675225
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) rs886060629
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter) rs1580117891
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.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter) rs779829941
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) rs1745754747
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) rs2112493238
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768
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
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter) rs1580817729

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