ClinVar Miner

List of variants in gene CHMP2B studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_014043.4(CHMP2B):c.*231T>C rs17189270 0.01035
NM_014043.4(CHMP2B):c.-151C>A rs77328592 0.01035
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014043.4(CHMP2B):c.*1588C>T rs11426 0.00691
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_014043.4(CHMP2B):c.*1255G>T rs144167614 0.00241
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_014043.4(CHMP2B):c.35-7C>T rs200912994 0.00133
NM_014043.4(CHMP2B):c.*1610C>T rs191312397 0.00124
NM_014043.4(CHMP2B):c.*864G>A rs181777395 0.00079
NM_014043.4(CHMP2B):c.*1408A>G rs183429826 0.00055
NM_014043.4(CHMP2B):c.*744C>A rs185167991 0.00048
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly) rs139894940 0.00048
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) rs148750997 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_014043.4(CHMP2B):c.*1647A>G rs534772903 0.00024
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) rs149380040 0.00015
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_014043.4(CHMP2B):c.*836T>C rs189927047 0.00012
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_014043.4(CHMP2B):c.*718C>T rs918982067 0.00010
NM_014043.4(CHMP2B):c.*1421C>T rs1016915311 0.00009
NM_014043.4(CHMP2B):c.532-3T>C rs375829451 0.00009
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln) rs188471297 0.00007
NM_014043.4(CHMP2B):c.*1516C>T rs1024508536 0.00006
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) rs376846232 0.00006
NM_014043.4(CHMP2B):c.424+10A>G rs375906390 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp) rs373536428 0.00006
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile) rs374277596 0.00004
NM_014043.4(CHMP2B):c.321+3A>G rs989392144 0.00004
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944 0.00004
NM_014043.4(CHMP2B):c.*1071A>G rs544589377 0.00003
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=) rs754433917 0.00003
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=) rs778796624 0.00003
NM_014043.4(CHMP2B):c.*1422G>A rs572323799 0.00002
NM_014043.4(CHMP2B):c.*1482T>A rs910263560 0.00001
NM_014043.4(CHMP2B):c.*1641A>C rs886058912 0.00001
NM_014043.4(CHMP2B):c.*901T>C rs1014335812 0.00001
NM_014043.4(CHMP2B):c.-144C>T rs1441064038 0.00001
NM_014043.4(CHMP2B):c.126+4A>G rs369912013 0.00001
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg) rs143800051 0.00001
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu) rs745754634 0.00001
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp) rs553846327 0.00001
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=) rs1364419230 0.00001
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met) rs1295215037 0.00001
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile) rs202143621 0.00001
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu) rs369257752 0.00001
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) rs63751048 0.00001
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter) rs763615051 0.00001
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1080C>T rs963258376
NM_014043.4(CHMP2B):c.*121G>A rs1706359144
NM_014043.4(CHMP2B):c.*1376G>C rs191203869
NM_014043.4(CHMP2B):c.*1414T>C rs1575973316
NM_014043.4(CHMP2B):c.*602T>G rs886058908
NM_014043.4(CHMP2B):c.*626A>G rs971797498
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_014043.4(CHMP2B):c.*968G>A rs886058910
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
NM_014043.4(CHMP2B):c.127-7C>T
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
NM_014043.4(CHMP2B):c.180T>G (p.Val60=)
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=) rs1706200423
NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)
NM_014043.4(CHMP2B):c.234A>C (p.Val78=) rs765641845
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu) rs1706202120
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr) rs2106908498
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=) rs778796624
NM_014043.4(CHMP2B):c.321+10A>C
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys) rs747904374
NM_014043.4(CHMP2B):c.34+14C>G
NM_014043.4(CHMP2B):c.34+6T>C
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val) rs1706285788
NM_014043.4(CHMP2B):c.424+19_424+21del rs2106913116
NM_014043.4(CHMP2B):c.424+20A>C
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp) rs2106916834
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=) rs767746876
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=) rs1285764025
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.531+14C>A
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014043.4(CHMP2B):c.532-14A>G
NM_014043.4(CHMP2B):c.532-1G>A rs63750652
NM_014043.4(CHMP2B):c.532-1G>C rs63750652
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp) rs2106917283
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln) rs750217435
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser) rs775142652

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