ClinVar Miner

List of variants in gene CCBE1 reported as uncertain significance for primary lymphedema

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.*2951_*2952insC rs33911880 0.02939
NM_133459.4(CCBE1):c.*1992A>T rs61687734 0.00581
NM_133459.4(CCBE1):c.*4173A>G rs150040471 0.00289
NM_133459.4(CCBE1):c.*3140G>T rs189149568 0.00249
NM_133459.4(CCBE1):c.*203A>G rs529266103 0.00226
NM_133459.4(CCBE1):c.*2080C>T rs181336531 0.00222
NM_133459.4(CCBE1):c.*2297_*2298insT rs886054053 0.00211
NM_133459.4(CCBE1):c.*2728A>G rs150355335 0.00163
NM_133459.4(CCBE1):c.*1463del rs763605982 0.00156
NM_133459.4(CCBE1):c.*4799G>A rs187448235 0.00137
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr) rs139059968 0.00127
NM_133459.4(CCBE1):c.*1021T>A rs573115978 0.00113
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met) rs147974432 0.00096
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) rs191999971 0.00058
NM_133459.4(CCBE1):c.*4773C>G rs192810490 0.00057
NM_133459.4(CCBE1):c.-27G>T rs767364494 0.00055
NM_133459.4(CCBE1):c.519A>G (p.Thr173=) rs141327514 0.00055
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_133459.4(CCBE1):c.*942C>T rs148435558 0.00051
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln) rs141638717 0.00051
NM_133459.4(CCBE1):c.*3430T>C rs1360147097 0.00044
NM_133459.4(CCBE1):c.*2903G>C rs181044048 0.00039
NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu) rs147681552 0.00038
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln) rs200772179 0.00038
NM_133459.4(CCBE1):c.*3893C>T rs192002000 0.00036
NM_133459.4(CCBE1):c.*4818G>A rs531452846 0.00036
NM_133459.4(CCBE1):c.*2340T>C rs528130337 0.00035
NM_133459.4(CCBE1):c.*835T>A rs542982078 0.00034
NM_133459.4(CCBE1):c.*836C>T rs575906287 0.00034
NM_133459.4(CCBE1):c.*1347C>T rs182559343 0.00032
NM_133459.4(CCBE1):c.*2373C>T rs530647353 0.00031
NM_133459.4(CCBE1):c.*4715T>G rs570883624 0.00025
NM_133459.4(CCBE1):c.*4940A>T rs374031151 0.00025
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_133459.4(CCBE1):c.*20G>A rs372843233 0.00021
NM_133459.4(CCBE1):c.*2299T>A rs886054052 0.00021
NM_133459.4(CCBE1):c.654+10G>A rs199573616 0.00020
NM_133459.4(CCBE1):c.810C>T (p.Pro270=) rs151243930 0.00020
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_133459.4(CCBE1):c.*3862G>A rs368332997 0.00016
NM_133459.4(CCBE1):c.*70A>G rs771950874 0.00016
NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser) rs148498685 0.00015
NM_133459.4(CCBE1):c.*4375T>C rs776172092 0.00014
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_133459.4(CCBE1):c.*3788T>A rs886054042 0.00012
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp) rs147208835 0.00012
NM_133459.4(CCBE1):c.*2771A>G rs886054050 0.00011
NM_133459.4(CCBE1):c.*1628T>A rs886054065 0.00010
NM_133459.4(CCBE1):c.*803C>G rs755405287 0.00010
NM_133459.4(CCBE1):c.*2411C>T rs930821759 0.00009
NM_133459.4(CCBE1):c.*2953C>A rs79828144 0.00009
NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser) rs369736447 0.00009
NM_133459.4(CCBE1):c.*2023G>C rs540232421 0.00008
NM_133459.4(CCBE1):c.*3922T>A rs939031016 0.00008
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=) rs375674582 0.00008
NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp) rs375717418 0.00008
NM_133459.4(CCBE1):c.*1655T>A rs187649543 0.00007
NM_133459.4(CCBE1):c.131+10G>A rs755608387 0.00007
NM_133459.4(CCBE1):c.*126G>A rs762712892 0.00006
NM_133459.4(CCBE1):c.*1421C>A rs770614078 0.00006
NM_133459.4(CCBE1):c.*19C>T rs376780422 0.00006
NM_133459.4(CCBE1):c.*2143G>A rs557473811 0.00006
NM_133459.4(CCBE1):c.*3809C>T rs1008249593 0.00006
NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln) rs140813794 0.00006
NM_133459.4(CCBE1):c.*182C>A rs1023099526 0.00005
NM_133459.4(CCBE1):c.*2901T>A rs151072136 0.00005
NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly) rs149792489 0.00005
NM_133459.4(CCBE1):c.*1346G>A rs370722132 0.00004
NM_133459.4(CCBE1):c.*1771G>A rs886054063 0.00004
NM_133459.4(CCBE1):c.*2810A>G rs886054049 0.00004
NM_133459.4(CCBE1):c.*3703G>A rs886054044 0.00004
NM_133459.4(CCBE1):c.*4710G>A rs1337715213 0.00004
NM_133459.4(CCBE1):c.*504T>C rs1164954310 0.00004
NM_133459.4(CCBE1):c.-30G>C rs777317997 0.00004
NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu) rs200656869 0.00004
NM_133459.4(CCBE1):c.853A>G (p.Met285Val) rs766239392 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_133459.4(CCBE1):c.*1257T>C rs967571265 0.00003
NM_133459.4(CCBE1):c.*2017G>A rs886054058 0.00003
NM_133459.4(CCBE1):c.*2058G>A rs886054055 0.00003
NM_133459.4(CCBE1):c.*2389C>G rs911000731 0.00003
NM_133459.4(CCBE1):c.*3143T>C rs886054047 0.00003
NM_133459.4(CCBE1):c.*3257A>G rs548992924 0.00003
NM_133459.4(CCBE1):c.*3623A>C rs886054046 0.00003
NM_133459.4(CCBE1):c.*4246C>G rs886054040 0.00003
NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys) rs761881641 0.00003
NM_133459.4(CCBE1):c.*1190C>T rs550948127 0.00002
NM_133459.4(CCBE1):c.*1401G>C rs563683232 0.00002
NM_133459.4(CCBE1):c.*3800G>A rs1296262836 0.00002
NM_133459.4(CCBE1):c.*610G>A rs551011131 0.00002
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=) rs114504060 0.00002
NM_133459.4(CCBE1):c.552T>C (p.Thr184=) rs771507895 0.00002
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) rs770685560 0.00002
NM_133459.4(CCBE1):c.*160A>G rs770290457 0.00001
NM_133459.4(CCBE1):c.*194A>G rs886054073 0.00001
NM_133459.4(CCBE1):c.*2912G>T rs559362654 0.00001
NM_133459.4(CCBE1):c.*3147T>C rs1473839692 0.00001
NM_133459.4(CCBE1):c.*3801G>A rs1909965307 0.00001
NM_133459.4(CCBE1):c.*4738G>A rs1004161493 0.00001
NM_133459.4(CCBE1):c.*4755A>C rs938648058 0.00001
NM_133459.4(CCBE1):c.*4877C>G rs139842926 0.00001
NM_133459.4(CCBE1):c.*752T>C rs886054068 0.00001
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=) rs765502530 0.00001
NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro) rs755044198 0.00001
NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala) rs766519876 0.00001
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly) rs530079482 0.00001
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) rs756973760 0.00001
NM_133459.4(CCBE1):c.274G>A (p.Val92Ile) rs374811948 0.00001
NM_133459.4(CCBE1):c.83C>T (p.Ala28Val) rs776814391 0.00001
NM_133459.4(CCBE1):c.*1161dup rs886054067
NM_133459.4(CCBE1):c.*1251G>A rs886054066
NM_133459.4(CCBE1):c.*146C>T rs886054074
NM_133459.4(CCBE1):c.*1489G>T rs1598896983
NM_133459.4(CCBE1):c.*1724C>T rs556647312
NM_133459.4(CCBE1):c.*1725G>A rs886054064
NM_133459.4(CCBE1):c.*1737C>T rs553357543
NM_133459.4(CCBE1):c.*1861C>T rs1192851582
NM_133459.4(CCBE1):c.*1933del rs886054061
NM_133459.4(CCBE1):c.*1933dup rs886054061
NM_133459.4(CCBE1):c.*1991_*1994del rs886054060
NM_133459.4(CCBE1):c.*2014_*2016dup rs373652074
NM_133459.4(CCBE1):c.*2015_*2017dup rs886054057
NM_133459.4(CCBE1):c.*2051C>A rs886054056
NM_133459.4(CCBE1):c.*2121C>T rs1910029324
NM_133459.4(CCBE1):c.*2210T>C rs886054054
NM_133459.4(CCBE1):c.*2297_*2298dup rs35448271
NM_133459.4(CCBE1):c.*261T>C rs886054072
NM_133459.4(CCBE1):c.*2635A>G rs1187439806
NM_133459.4(CCBE1):c.*2639del rs886054051
NM_133459.4(CCBE1):c.*267del rs561328038
NM_133459.4(CCBE1):c.*2891G>A rs886054048
NM_133459.4(CCBE1):c.*306_*307insAAAT rs886054071
NM_133459.4(CCBE1):c.*3231G>A rs1008043301
NM_133459.4(CCBE1):c.*3239G>C rs1909983760
NM_133459.4(CCBE1):c.*3668_*3676del rs886054045
NM_133459.4(CCBE1):c.*3704C>A rs193017602
NM_133459.4(CCBE1):c.*3784_*3787del rs886054043
NM_133459.4(CCBE1):c.*3883G>T rs886054041
NM_133459.4(CCBE1):c.*4215A>T rs1344828295
NM_133459.4(CCBE1):c.*4282G>A rs866996406
NM_133459.4(CCBE1):c.*4525T>C rs1909941641
NM_133459.4(CCBE1):c.*4550AAT[1] rs553910582
NM_133459.4(CCBE1):c.*4796G>C rs1048008
NM_133459.4(CCBE1):c.*4956A>C rs886054039
NM_133459.4(CCBE1):c.*645T>C rs886054070
NM_133459.4(CCBE1):c.*739A>T rs886054069
NM_133459.4(CCBE1):c.*781A>T rs1598897452
NM_133459.4(CCBE1):c.*938G>T rs1032781139
NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala) rs1910146610
NM_133459.4(CCBE1):c.1022T>C (p.Met341Thr)
NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly) rs757595184
NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg) rs192224843
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln) rs200219373
NM_133459.4(CCBE1):c.140G>C (p.Cys47Ser)
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
NM_133459.4(CCBE1):c.460T>G (p.Leu154Val) rs796238108
NM_133459.4(CCBE1):c.478G>A (p.Glu160Lys)
NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile) rs764855611
NM_133459.4(CCBE1):c.60G>C (p.Leu20=) rs2054822706
NM_133459.4(CCBE1):c.654+5G>A rs150596993
NM_133459.4(CCBE1):c.654+5G>C rs150596993
NM_133459.4(CCBE1):c.669C>A (p.Pro223=) rs886054075
NM_133459.4(CCBE1):c.733C>G (p.Leu245Val) rs761011754

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.