ClinVar Miner

List of variants in gene CCBE1 reported as uncertain significance for Hennekam syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
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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.*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.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.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

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