ClinVar Miner

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

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Total variants: 178
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HGVS dbSNP
NM_001127671.2(LIFR):c.*1051C>T rs189674684
NM_001127671.2(LIFR):c.*1086A>C
NM_001127671.2(LIFR):c.*10C>T
NM_001127671.2(LIFR):c.*1198C>T rs775264074
NM_001127671.2(LIFR):c.*1291G>A
NM_001127671.2(LIFR):c.*1302T>G rs886060621
NM_001127671.2(LIFR):c.*1464dup rs560124949
NM_001127671.2(LIFR):c.*1468T>G rs886060620
NM_001127671.2(LIFR):c.*1474T>G
NM_001127671.2(LIFR):c.*1540A>G rs547319835
NM_001127671.2(LIFR):c.*1643G>A
NM_001127671.2(LIFR):c.*1779A>G
NM_001127671.2(LIFR):c.*1854C>T rs886060619
NM_001127671.2(LIFR):c.*1855A>T rs886060618
NM_001127671.2(LIFR):c.*1859A>C rs772252918
NM_001127671.2(LIFR):c.*1860T>G rs748353397
NM_001127671.2(LIFR):c.*1952A>G
NM_001127671.2(LIFR):c.*1968A>C
NM_001127671.2(LIFR):c.*1972C>T
NM_001127671.2(LIFR):c.*2042A>G rs551424232
NM_001127671.2(LIFR):c.*212T>C
NM_001127671.2(LIFR):c.*2138dup rs141563662
NM_001127671.2(LIFR):c.*2360A>C
NM_001127671.2(LIFR):c.*2437A>G
NM_001127671.2(LIFR):c.*2464C>G rs140583327
NM_001127671.2(LIFR):c.*2476G>T rs555848744
NM_001127671.2(LIFR):c.*2585T>A
NM_001127671.2(LIFR):c.*2611C>T
NM_001127671.2(LIFR):c.*262A>G rs763998777
NM_001127671.2(LIFR):c.*2697A>G rs886060617
NM_001127671.2(LIFR):c.*2746T>A
NM_001127671.2(LIFR):c.*2825G>A
NM_001127671.2(LIFR):c.*2910G>A rs368109984
NM_001127671.2(LIFR):c.*2981_*2985TATTT[1] rs540513218
NM_001127671.2(LIFR):c.*3074A>G
NM_001127671.2(LIFR):c.*3085G>T
NM_001127671.2(LIFR):c.*3162T>G
NM_001127671.2(LIFR):c.*3163T>A
NM_001127671.2(LIFR):c.*3163T>C rs142495539
NM_001127671.2(LIFR):c.*3182G>A
NM_001127671.2(LIFR):c.*320C>T
NM_001127671.2(LIFR):c.*3302T>C rs868197411
NM_001127671.2(LIFR):c.*3302T>G rs868197411
NM_001127671.2(LIFR):c.*3375A>G rs778888227
NM_001127671.2(LIFR):c.*3449G>T
NM_001127671.2(LIFR):c.*3470G>T
NM_001127671.2(LIFR):c.*3563T>C
NM_001127671.2(LIFR):c.*368A>C rs886060625
NM_001127671.2(LIFR):c.*3748T>C rs144332222
NM_001127671.2(LIFR):c.*3753G>C
NM_001127671.2(LIFR):c.*3850T>G rs886060616
NM_001127671.2(LIFR):c.*3852C>G
NM_001127671.2(LIFR):c.*393G>T rs779132960
NM_001127671.2(LIFR):c.*4020T>G
NM_001127671.2(LIFR):c.*4024G>A rs140501581
NM_001127671.2(LIFR):c.*415A>G
NM_001127671.2(LIFR):c.*4264T>G rs886060615
NM_001127671.2(LIFR):c.*4346G>A
NM_001127671.2(LIFR):c.*4405G>C rs191397058
NM_001127671.2(LIFR):c.*4414G>A rs542094343
NM_001127671.2(LIFR):c.*4417A>G rs886060614
NM_001127671.2(LIFR):c.*4428T>C rs10056657
NM_001127671.2(LIFR):c.*4438A>G rs886060613
NM_001127671.2(LIFR):c.*443C>T
NM_001127671.2(LIFR):c.*4618T>C rs576106981
NM_001127671.2(LIFR):c.*4735C>A
NM_001127671.2(LIFR):c.*4799A>G
NM_001127671.2(LIFR):c.*4801A>G rs555849365
NM_001127671.2(LIFR):c.*4841G>A
NM_001127671.2(LIFR):c.*4926_*4927del rs764162435
NM_001127671.2(LIFR):c.*4927del rs764162435
NM_001127671.2(LIFR):c.*5004A>G
NM_001127671.2(LIFR):c.*5017A>G rs886060610
NM_001127671.2(LIFR):c.*5060T>A
NM_001127671.2(LIFR):c.*5107A>G
NM_001127671.2(LIFR):c.*517T>C
NM_001127671.2(LIFR):c.*5184G>A rs886060609
NM_001127671.2(LIFR):c.*5206A>G
NM_001127671.2(LIFR):c.*5421A>G
NM_001127671.2(LIFR):c.*5542G>A rs886060608
NM_001127671.2(LIFR):c.*5667T>C rs886060607
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.*5925C>A
NM_001127671.2(LIFR):c.*5986T>C rs886060604
NM_001127671.2(LIFR):c.*6041_*6042insTTA rs542021288
NM_001127671.2(LIFR):c.*6100G>A rs188682396
NM_001127671.2(LIFR):c.*6226A>G
NM_001127671.2(LIFR):c.*6248C>G
NM_001127671.2(LIFR):c.*6380G>C
NM_001127671.2(LIFR):c.*6386A>G
NM_001127671.2(LIFR):c.*6395T>C
NM_001127671.2(LIFR):c.*6483C>A
NM_001127671.2(LIFR):c.*648C>G rs886060624
NM_001127671.2(LIFR):c.*6491A>G
NM_001127671.2(LIFR):c.*6564C>T rs566612340
NM_001127671.2(LIFR):c.*657C>T
NM_001127671.2(LIFR):c.*933G>A
NM_001127671.2(LIFR):c.*966T>G rs886060623
NM_001127671.2(LIFR):c.*972C>T
NM_001127671.2(LIFR):c.*984T>C rs558681338
NM_001127671.2(LIFR):c.*987C>T rs886060622
NM_001127671.2(LIFR):c.*9C>A
NM_001127671.2(LIFR):c.-19-10C>T rs775849083
NM_001127671.2(LIFR):c.-19G>C
NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn)
NM_001127671.2(LIFR):c.1194A>G (p.Gln398=)
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val)
NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile) rs764228036
NM_001127671.2(LIFR):c.1338A>G (p.Ser446=) rs770514781
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186
NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu)
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.1439G>A (p.Arg480Gln)
NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp)
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=)
NM_001127671.2(LIFR):c.16G>A (p.Val6Ile) rs373771721
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323
NM_001127671.2(LIFR):c.1776C>G (p.His592Gln) rs762360996
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly)
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln)
NM_001127671.2(LIFR):c.183A>C (p.Gln61His)
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) rs199637361
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717
NM_001127671.2(LIFR):c.2001G>A (p.Ser667=)
NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser)
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys)
NM_001127671.2(LIFR):c.2066-14T>C rs749796645
NM_001127671.2(LIFR):c.2262C>A (p.Gly754=) rs886060630
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756
NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile) rs760903325
NM_001127671.2(LIFR):c.231T>C (p.Thr77=)
NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val)
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) rs746744753
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) rs61751711
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val)
NM_001127671.2(LIFR):c.2670+6C>G rs898718526
NM_001127671.2(LIFR):c.2671-10T>G rs201596849
NM_001127671.2(LIFR):c.2692T>C (p.Leu898=)
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) rs886060629
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala)
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.28C>T (p.Arg10Ter) rs3729732
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381
NM_001127671.2(LIFR):c.3082T>A (p.Tyr1028Asn) rs886060626
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538
NM_001127671.2(LIFR):c.3279C>T (p.Asn1093=) rs754371834
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368
NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys) rs61751712
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) rs140538535
NM_001127671.2(LIFR):c.562-12G>A
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu)
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883
NM_001127671.2(LIFR):c.935C>A (p.Thr312Lys) rs886060631
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123
NM_001127671.2(LIFR):c.991+10T>C
NM_001127671.2(LIFR):c.992-15dup rs773048780
NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu)
NM_002310.6(LIFR):c.-118G>A rs573436558
NM_002310.6(LIFR):c.-129T>G rs55892837
NM_002310.6(LIFR):c.-139G>A rs373489850
NM_002310.6(LIFR):c.-28G>A rs886060632
NM_002310.6(LIFR):c.-90T>C rs559787973

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