ClinVar Miner

List of variants in gene CEBPE studied for phagocytic cell dysfunction

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_001805.4(CEBPE):c.747C>T (p.Arg249=) rs55722931 0.01359
NM_001805.4(CEBPE):c.234C>T (p.Pro78=) rs114913626 0.00784
NM_001805.4(CEBPE):c.511-15T>G rs147453535 0.00613
NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) rs141903485 0.00539
NM_001805.4(CEBPE):c.35G>A (p.Arg12Gln) rs201106129 0.00081
NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn) rs149444043 0.00076
NM_001805.4(CEBPE):c.205C>T (p.Leu69Phe) rs146580935 0.00039
NM_001805.4(CEBPE):c.558G>A (p.Ala186=) rs372854243 0.00034
NM_001805.4(CEBPE):c.410G>A (p.Ser137Asn) rs140606768 0.00018
NM_001805.4(CEBPE):c.510+15G>A rs1178658628 0.00017
NM_001805.4(CEBPE):c.374G>A (p.Arg125Gln) rs61737804 0.00015
NM_001805.4(CEBPE):c.225T>C (p.Pro75=) rs573591210 0.00013
NM_001805.4(CEBPE):c.486C>T (p.Pro162=) rs770451421 0.00012
NM_001805.4(CEBPE):c.828C>T (p.Gly276=) rs143753215 0.00011
NM_001805.4(CEBPE):c.565C>T (p.Pro189Ser) rs376534358 0.00010
NM_001805.4(CEBPE):c.303G>A (p.Ala101=) rs149752323 0.00008
NM_001805.4(CEBPE):c.357G>A (p.Ala119=) rs202220573 0.00007
NM_001805.4(CEBPE):c.166G>A (p.Asp56Asn) rs371734898 0.00006
NM_001805.4(CEBPE):c.177C>G (p.Ala59=) rs141320203 0.00006
NM_001805.4(CEBPE):c.189G>A (p.Ala63=) rs199734343 0.00006
NM_001805.4(CEBPE):c.501C>T (p.Arg167=) rs746097846 0.00006
NM_001805.4(CEBPE):c.502G>A (p.Val168Ile) rs371549805 0.00006
NM_001805.4(CEBPE):c.55G>C (p.Glu19Gln) rs200738630 0.00006
NM_001805.4(CEBPE):c.711G>A (p.Leu237=) rs367795312 0.00006
NM_001805.4(CEBPE):c.308G>A (p.Gly103Glu) rs768417509 0.00005
NM_001805.4(CEBPE):c.511-17C>T rs749364093 0.00005
NM_001805.4(CEBPE):c.534C>A (p.Pro178=) rs137857228 0.00005
NM_001805.4(CEBPE):c.680G>A (p.Arg227Lys) rs372651475 0.00005
NM_001805.4(CEBPE):c.165C>T (p.Ser55=) rs374697077 0.00004
NM_001805.4(CEBPE):c.216C>T (p.Pro72=) rs200808733 0.00004
NM_001805.4(CEBPE):c.22G>A (p.Glu8Lys) rs780505713 0.00004
NM_001805.4(CEBPE):c.404G>A (p.Arg135Gln) rs374190826 0.00004
NM_001805.4(CEBPE):c.130G>A (p.Ala44Thr) rs200138272 0.00003
NM_001805.4(CEBPE):c.156G>A (p.Gln52=) rs1347517629 0.00003
NM_001805.4(CEBPE):c.188C>T (p.Ala63Val) rs561833547 0.00003
NM_001805.4(CEBPE):c.330A>G (p.Pro110=) rs771500785 0.00003
NM_001805.4(CEBPE):c.391C>T (p.Arg131Ter) rs760325316 0.00003
NM_001805.4(CEBPE):c.504T>C (p.Val168=) rs371937597 0.00003
NM_001805.4(CEBPE):c.609T>C (p.Asp203=) rs753337511 0.00003
NM_001805.4(CEBPE):c.82G>A (p.Gly28Arg) rs771346092 0.00003
NM_001805.4(CEBPE):c.124C>A (p.Leu42Ile) rs762775546 0.00002
NM_001805.4(CEBPE):c.129C>T (p.Ser43=) rs750232833 0.00002
NM_001805.4(CEBPE):c.178G>A (p.Val60Met) rs1376968968 0.00002
NM_001805.4(CEBPE):c.217G>A (p.Gly73Arg) rs556715943 0.00002
NM_001805.4(CEBPE):c.21C>T (p.Tyr7=) rs747473270 0.00002
NM_001805.4(CEBPE):c.223C>A (p.Pro75Thr) rs148458866 0.00002
NM_001805.4(CEBPE):c.227C>T (p.Ala76Val) rs1370239075 0.00002
NM_001805.4(CEBPE):c.279T>C (p.His93=) rs368706357 0.00002
NM_001805.4(CEBPE):c.286G>A (p.Gly96Ser) rs547817409 0.00002
NM_001805.4(CEBPE):c.335G>A (p.Ser112Asn) rs911185885 0.00002
NM_001805.4(CEBPE):c.399C>T (p.Ala133=) rs1322236997 0.00002
NM_001805.4(CEBPE):c.487G>A (p.Gly163Ser) rs762842144 0.00002
NM_001805.4(CEBPE):c.48G>A (p.Gln16=) rs553996405 0.00002
NM_001805.4(CEBPE):c.54C>T (p.Leu18=) rs752307075 0.00002
NM_001805.4(CEBPE):c.567G>A (p.Pro189=) rs373251741 0.00002
NM_001805.4(CEBPE):c.581A>C (p.His194Pro) rs757986590 0.00002
NM_001805.4(CEBPE):c.586G>A (p.Gly196Ser) rs147384349 0.00002
NM_001805.4(CEBPE):c.794G>A (p.Arg265His) rs199967428 0.00002
NM_001805.4(CEBPE):c.100T>A (p.Cys34Ser) rs376629444 0.00001
NM_001805.4(CEBPE):c.119T>C (p.Ile40Thr) rs766049556 0.00001
NM_001805.4(CEBPE):c.145G>A (p.Gly49Arg) rs1301261529 0.00001
NM_001805.4(CEBPE):c.148G>C (p.Glu50Gln) rs993358781 0.00001
NM_001805.4(CEBPE):c.222C>T (p.Thr74=) rs142854852 0.00001
NM_001805.4(CEBPE):c.228C>T (p.Ala76=) rs1308888249 0.00001
NM_001805.4(CEBPE):c.245C>T (p.Pro82Leu) rs372292172 0.00001
NM_001805.4(CEBPE):c.256C>T (p.Arg86Trp) rs773876082 0.00001
NM_001805.4(CEBPE):c.25T>G (p.Cys9Gly) rs942911403 0.00001
NM_001805.4(CEBPE):c.270C>T (p.Tyr90=) rs1038668199 0.00001
NM_001805.4(CEBPE):c.272C>G (p.Pro91Arg) rs1594808996 0.00001
NM_001805.4(CEBPE):c.292G>C (p.Asp98His) rs766386811 0.00001
NM_001805.4(CEBPE):c.339C>T (p.Tyr113=) rs745774569 0.00001
NM_001805.4(CEBPE):c.351T>C (p.Ala117=) rs368474011 0.00001
NM_001805.4(CEBPE):c.360G>A (p.Val120=) rs972830378 0.00001
NM_001805.4(CEBPE):c.373C>T (p.Arg125Trp) rs762474250 0.00001
NM_001805.4(CEBPE):c.38G>T (p.Gly13Val) rs779313226 0.00001
NM_001805.4(CEBPE):c.42C>T (p.Gly14=) rs756790379 0.00001
NM_001805.4(CEBPE):c.436G>T (p.Ala146Ser) rs769511891 0.00001
NM_001805.4(CEBPE):c.437C>T (p.Ala146Val) rs562211538 0.00001
NM_001805.4(CEBPE):c.469C>T (p.Pro157Ser) rs754418523 0.00001
NM_001805.4(CEBPE):c.484C>A (p.Pro162Thr) rs773794064 0.00001
NM_001805.4(CEBPE):c.511-20C>G rs2048517320 0.00001
NM_001805.4(CEBPE):c.517T>G (p.Leu173Val) rs766005459 0.00001
NM_001805.4(CEBPE):c.524C>G (p.Thr175Ser) rs758115639 0.00001
NM_001805.4(CEBPE):c.536C>T (p.Pro179Leu) rs778374638 0.00001
NM_001805.4(CEBPE):c.575C>T (p.Pro192Leu) rs755540311 0.00001
NM_001805.4(CEBPE):c.601A>G (p.Asn201Asp) rs201257734 0.00001
NM_001805.4(CEBPE):c.603C>T (p.Asn201=) rs753524435 0.00001
NM_001805.4(CEBPE):c.611G>C (p.Ser204Thr) rs760759078 0.00001
NM_001805.4(CEBPE):c.64G>A (p.Gly22Arg) rs766209986 0.00001
NM_001805.4(CEBPE):c.657C>T (p.Arg219=) rs2048515613 0.00001
NM_001805.4(CEBPE):c.669C>T (p.Asp223=) rs2048515560 0.00001
NM_001805.4(CEBPE):c.70C>T (p.Arg24Ter) rs1396196056 0.00001
NM_001805.4(CEBPE):c.721G>A (p.Ala241Thr) rs1310252768 0.00001
NM_001805.4(CEBPE):c.723A>G (p.Ala241=) rs374712257 0.00001
NM_001805.4(CEBPE):c.729C>T (p.Asn243=) rs768742384 0.00001
NM_001805.4(CEBPE):c.733C>T (p.Arg245Cys) rs761128015 0.00001
NM_001805.4(CEBPE):c.740G>A (p.Arg247His) rs1348809504 0.00001
NM_001805.4(CEBPE):c.772G>A (p.Asp258Asn) rs755654290 0.00001
NM_001805.4(CEBPE):c.795C>G (p.Arg265=) rs1433033805 0.00001
NM_001805.4(CEBPE):c.810G>A (p.Ala270=) rs774719241 0.00001
NM_001805.4(CEBPE):c.81C>T (p.Pro27=) rs746375669 0.00001
NM_001805.4(CEBPE):c.820A>G (p.Ile274Val) rs1431194938 0.00001
NM_001805.4(CEBPE):c.103G>A (p.Glu35Lys)
NM_001805.4(CEBPE):c.105G>T (p.Glu35Asp) rs2140292273
NM_001805.4(CEBPE):c.10G>A (p.Gly4Arg) rs545367685
NM_001805.4(CEBPE):c.122A>G (p.Asp41Gly) rs2140292255
NM_001805.4(CEBPE):c.12_18dup (p.Tyr7fs) rs2140292375
NM_001805.4(CEBPE):c.138C>T (p.Ile46=) rs201515929
NM_001805.4(CEBPE):c.140A>C (p.Glu47Ala) rs2048524240
NM_001805.4(CEBPE):c.157C>T (p.Leu53Phe) rs1303931802
NM_001805.4(CEBPE):c.159T>C (p.Leu53=)
NM_001805.4(CEBPE):c.177C>T (p.Ala59=) rs141320203
NM_001805.4(CEBPE):c.18C>T (p.Tyr6=) rs776516349
NM_001805.4(CEBPE):c.199A>G (p.Arg67Gly) rs750228203
NM_001805.4(CEBPE):c.201dup (p.Gly68fs) rs2140292187
NM_001805.4(CEBPE):c.207C>G (p.Leu69=)
NM_001805.4(CEBPE):c.208A>G (p.Lys70Glu)
NM_001805.4(CEBPE):c.20A>G (p.Tyr7Cys) rs2501821392
NM_001805.4(CEBPE):c.213C>A (p.Gly71=) rs759592746
NM_001805.4(CEBPE):c.216C>G (p.Pro72=) rs200808733
NM_001805.4(CEBPE):c.240C>T (p.Tyr80=) rs2140292130
NM_001805.4(CEBPE):c.249T>C (p.Pro83=) rs2140292119
NM_001805.4(CEBPE):c.249_253del (p.Asp84fs) rs2140292116
NM_001805.4(CEBPE):c.302C>T (p.Ala101Val) rs762247760
NM_001805.4(CEBPE):c.303G>C (p.Ala101=) rs149752323
NM_001805.4(CEBPE):c.340G>A (p.Asp114Asn) rs2048522694
NM_001805.4(CEBPE):c.343C>A (p.Pro115Thr) rs1462971245
NM_001805.4(CEBPE):c.349G>A (p.Ala117Thr) rs1566773537
NM_001805.4(CEBPE):c.34C>T (p.Arg12Trp)
NM_001805.4(CEBPE):c.352G>T (p.Val118Leu) rs749080899
NM_001805.4(CEBPE):c.356C>A (p.Ala119Glu) rs752134859
NM_001805.4(CEBPE):c.356C>T (p.Ala119Val) rs752134859
NM_001805.4(CEBPE):c.357G>T (p.Ala119=) rs202220573
NM_001805.4(CEBPE):c.366G>T (p.Glu122Asp) rs2048522473
NM_001805.4(CEBPE):c.392G>A (p.Arg131Gln) rs1363301754
NM_001805.4(CEBPE):c.395_406del (p.Ala132_Arg135del) rs757777504
NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter) rs775036569
NM_001805.4(CEBPE):c.452_453delinsGC (p.Thr151Ser) rs2501819918
NM_001805.4(CEBPE):c.474T>C (p.Thr158=)
NM_001805.4(CEBPE):c.496C>G (p.Leu166Val) rs1273577069
NM_001805.4(CEBPE):c.499C>T (p.Arg167Cys) rs559886851
NM_001805.4(CEBPE):c.509dup (p.Ala171fs) rs2140291802
NM_001805.4(CEBPE):c.510+10G>A rs1422107238
NM_001805.4(CEBPE):c.510+17C>T
NM_001805.4(CEBPE):c.510+18C>T
NM_001805.4(CEBPE):c.510+6A>G rs2048521107
NM_001805.4(CEBPE):c.511-13C>G
NM_001805.4(CEBPE):c.511-24G>A rs45496295
NM_001805.4(CEBPE):c.511-7C>T rs755307869
NM_001805.4(CEBPE):c.511-9C>T
NM_001805.4(CEBPE):c.511G>A (p.Ala171Thr)
NM_001805.4(CEBPE):c.512C>A (p.Ala171Asp) rs751972931
NM_001805.4(CEBPE):c.525T>C (p.Thr175=) rs2501818117
NM_001805.4(CEBPE):c.534C>T (p.Pro178=) rs137857228
NM_001805.4(CEBPE):c.546C>T (p.Pro182=) rs760523803
NM_001805.4(CEBPE):c.547C>T (p.Leu183Phe) rs775481612
NM_001805.4(CEBPE):c.54C>A (p.Leu18=) rs752307075
NM_001805.4(CEBPE):c.54C>G (p.Leu18=) rs752307075
NM_001805.4(CEBPE):c.551T>C (p.Leu184Pro) rs749540911
NM_001805.4(CEBPE):c.554A>C (p.Lys185Thr) rs2501818016
NM_001805.4(CEBPE):c.555G>A (p.Lys185=)
NM_001805.4(CEBPE):c.564C>T (p.Ser188=) rs369145261
NM_001805.4(CEBPE):c.567G>C (p.Pro189=) rs373251741
NM_001805.4(CEBPE):c.567G>T (p.Pro189=) rs373251741
NM_001805.4(CEBPE):c.567_568dup (p.Ala190fs) rs2048516315
NM_001805.4(CEBPE):c.573C>T (p.Gly191=) rs2501817946
NM_001805.4(CEBPE):c.586G>T (p.Gly196Cys) rs147384349
NM_001805.4(CEBPE):c.587G>A (p.Gly196Asp) rs1664525350
NM_001805.4(CEBPE):c.624G>A (p.Arg208=) rs141185489
NM_001805.4(CEBPE):c.636G>A (p.Glu212=)
NM_001805.4(CEBPE):c.637C>T (p.Arg213Cys) rs2140291181
NM_001805.4(CEBPE):c.638G>A (p.Arg213His) rs2048515737
NM_001805.4(CEBPE):c.642C>T (p.Asn214=) rs2048515701
NM_001805.4(CEBPE):c.645C>T (p.Asn215=) rs2501817757
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697
NM_001805.4(CEBPE):c.655_665del (p.Lys220fs) rs2501817698
NM_001805.4(CEBPE):c.662G>A (p.Ser221Asn) rs1566773059
NM_001805.4(CEBPE):c.66G>C (p.Gly22=) rs776941005
NM_001805.4(CEBPE):c.66G>T (p.Gly22=) rs776941005
NM_001805.4(CEBPE):c.714G>A (p.Glu238=)
NM_001805.4(CEBPE):c.71G>A (p.Arg24Gln) rs747068325
NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del) rs2501817429
NM_001805.4(CEBPE):c.778C>T (p.Leu260Phe) rs1420638415
NM_001805.4(CEBPE):c.779T>G (p.Leu260Arg) rs2501817351
NM_001805.4(CEBPE):c.789C>G (p.Leu263=) rs1594808331
NM_001805.4(CEBPE):c.798G>A (p.Gln266=) rs961511817
NM_001805.4(CEBPE):c.804T>C (p.Pro268=) rs2140290990
NM_001805.4(CEBPE):c.813C>T (p.Ala271=) rs2140290979
NM_001805.4(CEBPE):c.81C>G (p.Pro27=) rs746375669
NM_001805.4(CEBPE):c.823A>T (p.Lys275Ter)
NM_001805.4(CEBPE):c.9C>G (p.His3Gln) rs769903476
NM_001805.4(CEBPE):c.9C>T (p.His3=)

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