ClinVar Miner

List of variants in gene ELANE reported as uncertain significance for autosomal dominant severe congenital neutropenia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.431G>A (p.Arg144His) rs142441575 0.00020
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_001972.4(ELANE):c.472C>G (p.Leu158Val) rs535990034 0.00011
NM_001972.4(ELANE):c.23C>T (p.Ala8Val) rs201961347 0.00010
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe) rs1085307624 0.00010
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln) rs375350474 0.00009
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_001972.4(ELANE):c.68-13G>A rs371409487 0.00007
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg) rs377698556 0.00005
NM_001972.4(ELANE):c.637C>T (p.His213Tyr) rs201326533 0.00005
NM_001972.4(ELANE):c.565C>A (p.Leu189Ile) rs200592180 0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met) rs367663236 0.00004
NM_001972.4(ELANE):c.658C>T (p.Arg220Trp) rs538571617 0.00004
NM_001972.4(ELANE):c.70A>C (p.Thr24Pro) rs367677280 0.00004
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) rs755088297 0.00003
NM_001972.4(ELANE):c.502G>A (p.Val168Ile) rs201313263 0.00003
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln) rs202234596 0.00003
NM_001972.4(ELANE):c.118G>A (p.Ala40Thr) rs1004780968 0.00002
NM_001972.4(ELANE):c.14G>A (p.Arg5His) rs1050778419 0.00002
NM_001972.4(ELANE):c.223G>A (p.Val75Ile) rs200998348 0.00002
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser) rs1196145112 0.00002
NM_001972.4(ELANE):c.354C>G (p.Ile118Met) rs759734732 0.00002
NM_001972.4(ELANE):c.407C>T (p.Ala136Val) rs145175658 0.00002
NM_001972.4(ELANE):c.556G>A (p.Val186Ile) rs140642538 0.00002
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser) rs773460580 0.00001
NM_001972.4(ELANE):c.119C>T (p.Ala40Val) rs1555709342 0.00001
NM_001972.4(ELANE):c.19C>T (p.Leu7Phe) rs771000673 0.00001
NM_001972.4(ELANE):c.214G>A (p.Val72Met) rs387906553 0.00001
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr) rs759486889 0.00001
NM_001972.4(ELANE):c.233G>A (p.Arg78His) rs569608929 0.00001
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser) rs769123461 0.00001
NM_001972.4(ELANE):c.262A>G (p.Asn88Asp) rs899133377 0.00001
NM_001972.4(ELANE):c.292G>A (p.Val98Met) rs267606781 0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) rs568474579 0.00001
NM_001972.4(ELANE):c.343C>A (p.Leu115Ile) rs761153954 0.00001
NM_001972.4(ELANE):c.352A>G (p.Ile118Val) rs1382122842 0.00001
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) rs1303279241 0.00001
NM_001972.4(ELANE):c.385A>G (p.Ile129Val) rs2035664153 0.00001
NM_001972.4(ELANE):c.418G>A (p.Ala140Thr) rs760393415 0.00001
NM_001972.4(ELANE):c.419C>T (p.Ala140Val) rs538255080 0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) rs199558534 0.00001
NM_001972.4(ELANE):c.430C>T (p.Arg144Cys) rs148726761 0.00001
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg) rs774508567 0.00001
NM_001972.4(ELANE):c.505C>A (p.Leu169Met) rs749675557 0.00001
NM_001972.4(ELANE):c.511G>A (p.Glu171Lys) rs202069727 0.00001
NM_001972.4(ELANE):c.518A>G (p.Asn173Ser) rs748345928 0.00001
NM_001972.4(ELANE):c.520G>A (p.Val174Met) rs1380068567 0.00001
NM_001972.4(ELANE):c.551G>A (p.Ser184Asn) rs1360344559 0.00001
NM_001972.4(ELANE):c.586G>A (p.Gly196Ser) rs747108397 0.00001
NM_001972.4(ELANE):c.598-2A>C rs1364734771 0.00001
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg) rs140880838 0.00001
NM_001972.4(ELANE):c.652T>C (p.Phe218Leu) rs200384291 0.00001
NM_001972.4(ELANE):c.662G>T (p.Gly221Val) rs756112245 0.00001
NM_001972.4(ELANE):c.67+1G>T rs1599290074 0.00001
NM_001972.4(ELANE):c.727G>T (p.Asp243Tyr) rs752022665 0.00001
NM_001972.4(ELANE):c.748G>A (p.Glu250Lys) rs1568306204 0.00001
NM_001972.4(ELANE):c.772C>T (p.Arg258Trp) rs747957936 0.00001
NC_000019.10:g.(?_852288)_(856184_?)del
NC_000019.9:g.(?_852326)_(856164_?)dup
NC_000019.9:g.(?_852329)_(855814_?)dup
NC_000019.9:g.(?_855938)_(856184_?)dup
NM_001972.4(ELANE):c.101G>T (p.Arg34Leu)
NM_001972.4(ELANE):c.107C>G (p.Ala36Gly) rs1238175738
NM_001972.4(ELANE):c.117C>A (p.His39Gln)
NM_001972.4(ELANE):c.117C>G (p.His39Gln)
NM_001972.4(ELANE):c.123_124insA (p.Pro42fs)
NM_001972.4(ELANE):c.12CCG[3] (p.Arg6dup) rs1172918693
NM_001972.4(ELANE):c.131_141del (p.Met44fs)
NM_001972.4(ELANE):c.133G>A (p.Val45Met)
NM_001972.4(ELANE):c.146T>C (p.Leu49Pro) rs2145144098
NM_001972.4(ELANE):c.14G>T (p.Arg5Leu)
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg) rs1320267189
NM_001972.4(ELANE):c.163T>C (p.Cys55Arg)
NM_001972.4(ELANE):c.163_165del (p.Cys55del) rs2035617167
NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) rs1555709360
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
NM_001972.4(ELANE):c.182C>A (p.Ala61Glu)
NM_001972.4(ELANE):c.184C>T (p.Pro62Ser)
NM_001972.4(ELANE):c.189C>A (p.Asn63Lys) rs2145144214
NM_001972.4(ELANE):c.200C>T (p.Ser67Leu)
NM_001972.4(ELANE):c.205G>A (p.Ala69Thr)
NM_001972.4(ELANE):c.205del (p.Ala69fs)
NM_001972.4(ELANE):c.214G>C (p.Val72Leu)
NM_001972.4(ELANE):c.222_223insAC (p.Val75fs) rs2035618552
NM_001972.4(ELANE):c.224+4A>T
NM_001972.4(ELANE):c.225-10_232dup
NM_001972.4(ELANE):c.225-3C>T
NM_001972.4(ELANE):c.225-6C>A rs777599059
NM_001972.4(ELANE):c.228C>A (p.Asn76Lys) rs746799175
NM_001972.4(ELANE):c.229G>A (p.Val77Ile)
NM_001972.4(ELANE):c.22G>C (p.Ala8Pro)
NM_001972.4(ELANE):c.233G>C (p.Arg78Pro) rs569608929
NM_001972.4(ELANE):c.233G>T (p.Arg78Leu)
NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)
NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) rs769123461
NM_001972.4(ELANE):c.239T>C (p.Val80Ala) rs2145144975
NM_001972.4(ELANE):c.23C>G (p.Ala8Gly) rs201961347
NM_001972.4(ELANE):c.242G>A (p.Arg81Gln)
NM_001972.4(ELANE):c.244G>A (p.Val82Met) rs2145144993
NM_001972.4(ELANE):c.247G>A (p.Val83Ile)
NM_001972.4(ELANE):c.255_266del (p.Ala86_Leu89del)
NM_001972.4(ELANE):c.256G>T (p.Ala86Ser) rs1599291445
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup) rs1468631555
NM_001972.4(ELANE):c.25T>C (p.Cys9Arg) rs2035607298
NM_001972.4(ELANE):c.264C>A (p.Asn88Lys) rs766647358
NM_001972.4(ELANE):c.269C>A (p.Ser90Ter)
NM_001972.4(ELANE):c.269C>T (p.Ser90Leu) rs890280050
NM_001972.4(ELANE):c.270_273dup (p.Arg92fs)
NM_001972.4(ELANE):c.271C>T (p.Arg91Trp)
NM_001972.4(ELANE):c.272G>C (p.Arg91Pro) rs1201600992
NM_001972.4(ELANE):c.284C>G (p.Thr95Ser) rs752760119
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp) rs777652186
NM_001972.4(ELANE):c.295T>C (p.Phe99Leu)
NM_001972.4(ELANE):c.297C>G (p.Phe99Leu)
NM_001972.4(ELANE):c.298G>A (p.Ala100Thr) rs549887145
NM_001972.4(ELANE):c.298G>T (p.Ala100Ser)
NM_001972.4(ELANE):c.300dup (p.Val101fs) rs2145145158
NM_001972.4(ELANE):c.315C>G (p.Phe105Leu)
NM_001972.4(ELANE):c.317A>C (p.Glu106Ala)
NM_001972.4(ELANE):c.319A>G (p.Asn107Asp)
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg) rs1221333968
NM_001972.4(ELANE):c.322G>T (p.Gly108Cys)
NM_001972.4(ELANE):c.342G>T (p.Leu114Phe) rs1568304522
NM_001972.4(ELANE):c.349G>C (p.Asp117His)
NM_001972.4(ELANE):c.353T>A (p.Ile118Asn) rs1599291639
NM_001972.4(ELANE):c.355G>C (p.Val119Leu)
NM_001972.4(ELANE):c.367-1G>C rs1442062349
NM_001972.4(ELANE):c.367-3C>T
NM_001972.4(ELANE):c.367C>G (p.Leu123Val) rs2035663521
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) rs2145148405
NM_001972.4(ELANE):c.372C>A (p.Asn124Lys) rs200595736
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.380CCA[1] (p.Thr128del) rs1599293834
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) rs756726256
NM_001972.4(ELANE):c.391G>A (p.Ala131Thr)
NM_001972.4(ELANE):c.392C>T (p.Ala131Val) rs2035664443
NM_001972.4(ELANE):c.396C>A (p.Asn132Lys)
NM_001972.4(ELANE):c.39C>G (p.Ala13=) rs139637472
NM_001972.4(ELANE):c.401A>G (p.Gln134Arg)
NM_001972.4(ELANE):c.403G>A (p.Val135Met) rs774457980
NM_001972.4(ELANE):c.403G>T (p.Val135Leu)
NM_001972.4(ELANE):c.410_416del (p.Gln137fs)
NM_001972.4(ELANE):c.411G>C (p.Gln137His)
NM_001972.4(ELANE):c.41G>A (p.Cys14Tyr) rs1470888380
NM_001972.4(ELANE):c.437_457dup (p.Gly146_Leu152dup) rs2145148571
NM_001972.4(ELANE):c.443G>A (p.Gly148Glu) rs1309647401
NM_001972.4(ELANE):c.466T>A (p.Trp156Arg)
NM_001972.4(ELANE):c.467G>C (p.Trp156Ser) rs2035666353
NM_001972.4(ELANE):c.469G>A (p.Gly157Ser)
NM_001972.4(ELANE):c.472C>T (p.Leu158Phe) rs535990034
NM_001972.4(ELANE):c.482G>A (p.Arg161Lys)
NM_001972.4(ELANE):c.487C>A (p.Arg163Ser) rs759382746
NM_001972.4(ELANE):c.487C>T (p.Arg163Cys)
NM_001972.4(ELANE):c.488G>A (p.Arg163His)
NM_001972.4(ELANE):c.493A>G (p.Ile165Val) rs1599294094
NM_001972.4(ELANE):c.496G>A (p.Ala166Thr)
NM_001972.4(ELANE):c.509A>G (p.Gln170Arg)
NM_001972.4(ELANE):c.513G>T (p.Glu171Asp)
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro) rs797045007
NM_001972.4(ELANE):c.531G>A (p.Val177=)
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys) rs747053501
NM_001972.4(ELANE):c.533C>T (p.Thr178Met)
NM_001972.4(ELANE):c.542G>A (p.Cys181Tyr)
NM_001972.4(ELANE):c.550A>C (p.Ser184Arg) rs2035668478
NM_001972.4(ELANE):c.566dup (p.Val190fs)
NM_001972.4(ELANE):c.567C>G (p.Leu189=) rs751132983
NM_001972.4(ELANE):c.568G>C (p.Val190Leu)
NM_001972.4(ELANE):c.569T>G (p.Val190Gly) rs1322572531
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser) rs754277797
NM_001972.4(ELANE):c.581A>T (p.Gln194Leu)
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
NM_001972.4(ELANE):c.583G>A (p.Ala195Thr)
NM_001972.4(ELANE):c.584C>A (p.Ala195Asp)
NM_001972.4(ELANE):c.589G>A (p.Val197Ile) rs1471191879
NM_001972.4(ELANE):c.597+3A>T rs2145149093
NM_001972.4(ELANE):c.597+4C>T
NM_001972.4(ELANE):c.597+5G>C
NM_001972.4(ELANE):c.597+5_597+8del rs2035670462
NM_001972.4(ELANE):c.597C>T (p.Phe199=)
NM_001972.4(ELANE):c.607G>T (p.Gly203Cys) rs201139487
NM_001972.4(ELANE):c.619G>C (p.Val207Leu) rs2035674003
NM_001972.4(ELANE):c.619G>T (p.Val207Phe) rs2035674003
NM_001972.4(ELANE):c.623G>T (p.Cys208Phe) rs1226645940
NM_001972.4(ELANE):c.634A>G (p.Ile212Val) rs2035674370
NM_001972.4(ELANE):c.639C>A (p.His213Gln)
NM_001972.4(ELANE):c.644T>A (p.Ile215Asn) rs771710628
NM_001972.4(ELANE):c.644T>C (p.Ile215Thr)
NM_001972.4(ELANE):c.647C>T (p.Ala216Val) rs760080772
NM_001972.4(ELANE):c.64G>C (p.Gly22Arg) rs1477643766
NM_001972.4(ELANE):c.659G>C (p.Arg220Pro) rs137854445
NM_001972.4(ELANE):c.664G>A (p.Gly222Ser) rs2145149692
NM_001972.4(ELANE):c.664G>T (p.Gly222Cys) rs2145149692
NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) rs1555710104
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg) rs780046041
NM_001972.4(ELANE):c.688G>C (p.Asp230His)
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp) rs2145143878
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661
NM_001972.4(ELANE):c.724A>T (p.Ile242Phe)
NM_001972.4(ELANE):c.733_737dup (p.Gln247fs)
NM_001972.4(ELANE):c.73G>A (p.Ala25Thr)
NM_001972.4(ELANE):c.740A>T (p.Gln247Leu)
NM_001972.4(ELANE):c.744C>G (p.Arg248=) rs2035677633
NM_001972.4(ELANE):c.746C>G (p.Ser249Cys)
NM_001972.4(ELANE):c.74C>A (p.Ala25Glu) rs1396230082
NM_001972.4(ELANE):c.751G>T (p.Asp251Tyr)
NM_001972.4(ELANE):c.752A>C (p.Asp251Ala) rs2035677886
NM_001972.4(ELANE):c.760T>C (p.Cys254Arg) rs2145149914
NM_001972.4(ELANE):c.761G>A (p.Cys254Tyr)
NM_001972.4(ELANE):c.775G>C (p.Asp259His) rs1408272130
NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)
NM_001972.4(ELANE):c.782A>G (p.Asp261Gly)
NM_001972.4(ELANE):c.790A>G (p.Ser264Gly)
NM_001972.4(ELANE):c.803G>C (p.Ter268Ser)
NM_001972.4(ELANE):c.85G>A (p.Glu29Lys)
NM_001972.4(ELANE):c.91G>A (p.Val31Met) rs2145143909
NM_001972.4(ELANE):c.98del (p.Gly33fs)

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