ClinVar Miner

List of variants in gene LITAF reported as uncertain significance for Charcot-Marie-Tooth disease type 1C

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001136472.2(LITAF):c.*500A>G rs767760361 0.00024
NM_001136472.2(LITAF):c.226G>A (p.Val76Met) rs371334679 0.00021
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg) rs201283647 0.00020
NM_001136472.2(LITAF):c.*1364A>C rs775642546 0.00019
NM_001136472.2(LITAF):c.-6+539G>A rs545189325 0.00016
NM_001136472.2(LITAF):c.-6+657C>A rs374282727 0.00013
NM_001136472.2(LITAF):c.*1054A>C rs967890581 0.00010
NM_001136472.2(LITAF):c.*598G>A rs367546754 0.00010
NM_001136472.2(LITAF):c.448A>C (p.Asn150His) rs764014476 0.00009
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_001136472.2(LITAF):c.*1879A>G rs760630375 0.00006
NM_001136472.2(LITAF):c.197C>T (p.Ala66Val) rs140714668 0.00006
NM_001136472.2(LITAF):c.310G>A (p.Val104Met) rs373445989 0.00006
NM_001136472.2(LITAF):c.*185T>C rs565356536 0.00005
NM_001136472.2(LITAF):c.*882G>A rs535657236 0.00005
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001136472.2(LITAF):c.*193G>A rs886051652 0.00004
NM_001136472.2(LITAF):c.209A>G (p.Asn70Ser) rs746577483 0.00003
NM_001136472.2(LITAF):c.220+4C>T rs771956181 0.00003
NM_001136472.2(LITAF):c.239A>G (p.Tyr80Cys) rs539627278 0.00003
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr) rs543022814 0.00003
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_001136472.2(LITAF):c.115C>T (p.Pro39Ser) rs375202318 0.00002
NM_001136472.2(LITAF):c.378-3C>T rs774213197 0.00002
NM_001136472.2(LITAF):c.410G>A (p.Cys137Tyr) rs144232569 0.00002
NM_001136472.2(LITAF):c.418G>A (p.Ala140Thr) rs754821950 0.00002
NM_001136472.2(LITAF):c.479G>A (p.Arg160His) rs864622744 0.00002
NM_001136472.2(LITAF):c.*1170A>G rs886051648 0.00001
NM_001136472.2(LITAF):c.*1422A>G rs1005760992 0.00001
NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp) rs775942980 0.00001
NM_001136472.2(LITAF):c.151C>T (p.Pro51Ser) rs752978718 0.00001
NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg) rs755155866 0.00001
NM_001136472.2(LITAF):c.172C>T (p.Pro58Ser) rs1342498271 0.00001
NM_001136472.2(LITAF):c.173C>T (p.Pro58Leu) rs1313689306 0.00001
NM_001136472.2(LITAF):c.17C>T (p.Pro6Leu) rs774532093 0.00001
NM_001136472.2(LITAF):c.223A>G (p.Thr75Ala) rs756539992 0.00001
NM_001136472.2(LITAF):c.233C>T (p.Thr78Met) rs1228516620 0.00001
NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu) rs761746674 0.00001
NM_001136472.2(LITAF):c.269G>A (p.Arg90His) rs200789696 0.00001
NM_001136472.2(LITAF):c.26C>T (p.Ala9Val) rs529766640 0.00001
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val) rs201512884 0.00001
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr) rs368574479 0.00001
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000016.9:g.(?_11643493)_(11650586_?)del
NC_000016.9:g.(?_11647369)_(11647565_?)dup
NC_000016.9:g.(?_11650347)_(11650606_?)del
NM_001136472.2(LITAF):c.*1217A>C rs942172049
NM_001136472.2(LITAF):c.*1386G>A rs184312185
NM_001136472.2(LITAF):c.*1399C>A rs774513067
NM_001136472.2(LITAF):c.*1436T>G rs2064132273
NM_001136472.2(LITAF):c.*1557C>A rs886051647
NM_001136472.2(LITAF):c.*234C>A rs1370604103
NM_001136472.2(LITAF):c.*294A>T rs886051651
NM_001136472.2(LITAF):c.*33G>A rs766852963
NM_001136472.2(LITAF):c.*563A>C rs2064145331
NM_001136472.2(LITAF):c.*723A>G rs886051650
NM_001136472.2(LITAF):c.*949A>G rs886051649
NM_001136472.2(LITAF):c.-6+513G>C rs2064807880
NM_001136472.2(LITAF):c.-6+618C>G rs962811879
NM_001136472.2(LITAF):c.100C>T (p.Pro34Ser)
NM_001136472.2(LITAF):c.112G>A (p.Ala38Thr)
NM_001136472.2(LITAF):c.134C>T (p.Thr45Met)
NM_001136472.2(LITAF):c.143T>C (p.Val48Ala)
NM_001136472.2(LITAF):c.149G>T (p.Gly50Val)
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136472.2(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136472.2(LITAF):c.168del (p.Met56fs) rs2064272514
NM_001136472.2(LITAF):c.176C>G (p.Pro59Arg)
NM_001136472.2(LITAF):c.182A>G (p.Tyr61Cys) rs2141716501
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser) rs2064271547
NM_001136472.2(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136472.2(LITAF):c.215A>G (p.Asn72Ser)
NM_001136472.2(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136472.2(LITAF):c.232A>G (p.Thr78Ala)
NM_001136472.2(LITAF):c.236T>C (p.Val79Ala) rs1597329501
NM_001136472.2(LITAF):c.241G>T (p.Val81Leu)
NM_001136472.2(LITAF):c.271C>T (p.Pro91Ser)
NM_001136472.2(LITAF):c.272C>G (p.Pro91Arg) rs11544251
NM_001136472.2(LITAF):c.272C>T (p.Pro91Leu) rs11544251
NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg) rs2064218551
NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr)
NM_001136472.2(LITAF):c.310G>T (p.Val104Leu) rs373445989
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136472.2(LITAF):c.332C>T (p.Ala111Val) rs281865134
NM_001136472.2(LITAF):c.335G>A (p.Gly112Asp)
NM_001136472.2(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136472.2(LITAF):c.348G>C (p.Trp116Cys)
NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg)
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr) rs2064215812
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136472.2(LITAF):c.374T>C (p.Leu125Pro) rs2064215657
NM_001136472.2(LITAF):c.382A>G (p.Ile128Val)
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_001136472.2(LITAF):c.388G>T (p.Gly130Cys) rs879254325
NM_001136472.2(LITAF):c.389G>C (p.Gly130Ala) rs2141682573
NM_001136472.2(LITAF):c.392G>A (p.Cys131Tyr)
NM_001136472.2(LITAF):c.3G>A (p.Met1Ile) rs560130408
NM_001136472.2(LITAF):c.3G>T (p.Met1Ile)
NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu) rs797044848
NM_001136472.2(LITAF):c.407T>C (p.Phe136Ser) rs2141682435
NM_001136472.2(LITAF):c.409T>C (p.Cys137Arg) rs2064155943
NM_001136472.2(LITAF):c.409T>G (p.Cys137Gly) rs2064155943
NM_001136472.2(LITAF):c.412G>A (p.Val138Met) rs780788687
NM_001136472.2(LITAF):c.415G>C (p.Asp139His)
NM_001136472.2(LITAF):c.424C>T (p.Gln142Ter) rs1174214039
NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu) rs374918259
NM_001136472.2(LITAF):c.430G>T (p.Val144Leu) rs121908615
NM_001136472.2(LITAF):c.449A>G (p.Asn150Ser)
NM_001136472.2(LITAF):c.450C>A (p.Asn150Lys)
NM_001136472.2(LITAF):c.450C>G (p.Asn150Lys)
NM_001136472.2(LITAF):c.458C>T (p.Ala153Val)
NM_001136472.2(LITAF):c.468C>T (p.Gly156=) rs774123275
NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser) rs2064275795
NM_001136472.2(LITAF):c.470C>G (p.Thr157Ser)
NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys) rs772527709
NM_001136472.2(LITAF):c.483G>C (p.Leu161Phe)
NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu)
NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr) rs753060675
NM_001136472.2(LITAF):c.56C>T (p.Ala19Val)
NM_001136472.2(LITAF):c.5C>T (p.Ser2Leu)
NM_001136472.2(LITAF):c.85G>A (p.Val29Ile) rs767809270

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.