ClinVar Miner

List of variants in gene ELANE studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 424
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
NM_001972.3(ELANE):c.-41C>A rs17216614 0.00970
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr) rs143579306 0.00055
NM_001972.4(ELANE):c.784C>T (p.Pro262Ser) rs138211132 0.00046
NM_001972.4(ELANE):c.171C>T (p.Ala57=) rs201224981 0.00039
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_001972.4(ELANE):c.16C>A (p.Arg6=) rs182347433 0.00028
NM_001972.4(ELANE):c.68-15C>A rs367875841 0.00026
NM_001972.4(ELANE):c.441C>T (p.Asn147=) rs146878885 0.00022
NM_001972.4(ELANE):c.431G>A (p.Arg144His) rs142441575 0.00020
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_001972.4(ELANE):c.174C>T (p.Thr58=) rs199714513 0.00014
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.366+9G>A rs200948740 0.00009
NM_001972.4(ELANE):c.417G>A (p.Pro139=) rs199702100 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.375G>A (p.Gly125=) rs201512730 0.00006
NM_001972.4(ELANE):c.378G>A (p.Ser126=) rs202204133 0.00006
NM_001972.4(ELANE):c.396C>T (p.Asn132=) rs144441259 0.00006
NM_001972.4(ELANE):c.519C>T (p.Asn173=) rs200393776 0.00006
NM_001972.4(ELANE):c.585C>T (p.Ala195=) rs777834651 0.00006
NM_001972.4(ELANE):c.597+10C>G rs201460728 0.00006
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.68-19G>A rs199933756 0.00005
NM_001972.4(ELANE):c.321C>T (p.Asn107=) rs200786414 0.00004
NM_001972.4(ELANE):c.333C>G (p.Pro111=) rs774932781 0.00004
NM_001972.4(ELANE):c.372C>T (p.Asn124=) rs200595736 0.00004
NM_001972.4(ELANE):c.380C>T (p.Ala127Val) rs781705775 0.00004
NM_001972.4(ELANE):c.456G>A (p.Leu152=) rs200599820 0.00004
NM_001972.4(ELANE):c.495C>T (p.Ile165=) rs200923638 0.00004
NM_001972.4(ELANE):c.564T>C (p.Thr188=) rs1183281178 0.00004
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.711G>A (p.Gln237=) rs201714374 0.00004
NM_001972.4(ELANE):c.100C>T (p.Arg34Trp) rs201163886 0.00003
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NM_001972.4(ELANE):c.21C>T (p.Leu7=) rs200666143 0.00003
NM_001972.4(ELANE):c.225-8C>T rs771866084 0.00003
NM_001972.4(ELANE):c.24G>A (p.Ala8=) rs199901033 0.00003
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) rs755088297 0.00003
NM_001972.4(ELANE):c.367-7G>A rs201878637 0.00003
NM_001972.4(ELANE):c.502G>A (p.Val168Ile) rs201313263 0.00003
NM_001972.4(ELANE):c.627C>T (p.Asn209=) rs201664319 0.00003
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln) rs202234596 0.00003
NM_001972.4(ELANE):c.108G>A (p.Ala36=) rs886109432 0.00002
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.219G>A (p.Ala73=) rs780340448 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.578G>A (p.Arg193Gln) rs199659114 0.00002
NM_001972.4(ELANE):c.598-19A>G rs970584462 0.00002
NM_001972.4(ELANE):c.687C>T (p.Pro229=) rs199670861 0.00002
NM_001972.4(ELANE):c.102G>A (p.Arg34=) rs1241470202 0.00001
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.168C>T (p.Gly56=) rs753213805 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.243G>T (p.Arg81=) rs768135268 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.345C>T (p.Leu115=) rs1479475108 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.366+19G>T rs1379344118 0.00001
NM_001972.4(ELANE):c.367-19T>C rs755889329 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.450G>A (p.Gln150=) rs761830204 0.00001
NM_001972.4(ELANE):c.492G>C (p.Gly164=) rs200050022 0.00001
NM_001972.4(ELANE):c.501C>T (p.Ser167=) rs756658547 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.598-1G>A rs201117839 0.00001
NM_001972.4(ELANE):c.598-2A>C rs1364734771 0.00001
NM_001972.4(ELANE):c.600G>A (p.Gly200=) rs144391144 0.00001
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg) rs140880838 0.00001
NM_001972.4(ELANE):c.63G>T (p.Leu21=) rs779360541 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.702G>A (p.Pro234=) rs202059602 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
NM_001972.4(ELANE):c.786G>A (p.Pro262=) rs762273987 0.00001
NM_001972.4(ELANE):c.9C>T (p.Leu3=) rs1199528225 0.00001
NC_000019.10:g.(?_852288)_(856184_?)del
NC_000019.9:g.(?_852326)_(856164_?)dup
NC_000019.9:g.(?_852329)_(853423_?)del
NC_000019.9:g.(?_852329)_(855814_?)dup
NC_000019.9:g.(?_855544)_(856164_?)del
NC_000019.9:g.(?_855938)_(856184_?)dup
NM_001972.2(ELANE):c.[292G>T;301G>T]
NM_001972.4(ELANE):c.101G>T (p.Arg34Leu)
NM_001972.4(ELANE):c.102G>T (p.Arg34=) rs1241470202
NM_001972.4(ELANE):c.107C>G (p.Ala36Gly) rs1238175738
NM_001972.4(ELANE):c.113C>T (p.Pro38Leu)
NM_001972.4(ELANE):c.114C>T (p.Pro38=) rs200245073
NM_001972.4(ELANE):c.117C>A (p.His39Gln)
NM_001972.4(ELANE):c.117C>G (p.His39Gln)
NM_001972.4(ELANE):c.120G>A (p.Ala40=)
NM_001972.4(ELANE):c.123_124insA (p.Pro42fs)
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)
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.136T>C (p.Ser46Pro) rs2035616857
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe) rs878855320
NM_001972.4(ELANE):c.138C>T (p.Ser46=) rs2145144082
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro) rs878855319
NM_001972.4(ELANE):c.146T>C (p.Leu49Pro) rs2145144098
NM_001972.4(ELANE):c.14G>T (p.Arg5Leu)
NM_001972.4(ELANE):c.150C>A (p.Arg50=)
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.164G>A (p.Cys55Tyr)
NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) rs2145144144
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.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.184C>T (p.Pro62Ser)
NM_001972.4(ELANE):c.189C>A (p.Asn63Lys) rs2145144214
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
NM_001972.4(ELANE):c.1A>G (p.Met1Val) rs2145142832
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.210C>T (p.His70=) rs1029080359
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) rs28931611
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_001972.4(ELANE):c.213C>T (p.Cys71=) rs1368129967
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.224+9C>G rs1418775355
NM_001972.4(ELANE):c.224+9C>T rs1418775355
NM_001972.4(ELANE):c.225-10_232dup
NM_001972.4(ELANE):c.225-16T>C
NM_001972.4(ELANE):c.225-17C>T
NM_001972.4(ELANE):c.225-3C>T
NM_001972.4(ELANE):c.225-4G>A rs2145144905
NM_001972.4(ELANE):c.225-6C>A rs777599059
NM_001972.4(ELANE):c.225-6C>T
NM_001972.4(ELANE):c.225-8C>G
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.237G>T (p.Ala79=) rs1158107493
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.242G>C (p.Arg81Pro) rs762470485
NM_001972.4(ELANE):c.243G>A (p.Arg81=)
NM_001972.4(ELANE):c.244G>A (p.Val82Met) rs2145144993
NM_001972.4(ELANE):c.247G>A (p.Val83Ile)
NM_001972.4(ELANE):c.24G>C (p.Ala8=) rs199901033
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) rs1405536870
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.258C>T (p.Ala86=) rs2145145024
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.261T>C (p.His87=) rs2145145030
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.270G>A (p.Ser90=)
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.282C>T (p.Pro94=)
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.287G>C (p.Arg96Pro)
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla) rs2145145135
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.300C>T (p.Ala100=) rs200002231
NM_001972.4(ELANE):c.300dup (p.Val101fs) rs2145145158
NM_001972.4(ELANE):c.301G>A (p.Val101Met) rs137854449
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) rs745455816
NM_001972.4(ELANE):c.315C>G (p.Phe105Leu)
NM_001972.4(ELANE):c.315C>T (p.Phe105=)
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.324C>T (p.Gly108=) rs2145145223
NM_001972.4(ELANE):c.336A>G (p.Val112=)
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.354C>T (p.Ile118=)
NM_001972.4(ELANE):c.355G>C (p.Val119Leu)
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
NM_001972.4(ELANE):c.366+13G>C
NM_001972.4(ELANE):c.366+17_366+21del rs1220139184
NM_001972.4(ELANE):c.366+18G>A
NM_001972.4(ELANE):c.366+23del
NM_001972.4(ELANE):c.366+7C>T rs1258334813
NM_001972.4(ELANE):c.366+8C>T rs752811125
NM_001972.4(ELANE):c.367-10_367-9dup rs750610201
NM_001972.4(ELANE):c.367-11C>T rs2145148374
NM_001972.4(ELANE):c.367-12C>T
NM_001972.4(ELANE):c.367-13C>T
NM_001972.4(ELANE):c.367-1G>A
NM_001972.4(ELANE):c.367-1G>C rs1442062349
NM_001972.4(ELANE):c.367-3C>T
NM_001972.4(ELANE):c.367-8C>A rs200752339
NM_001972.4(ELANE):c.367-8C>T rs200752339
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.36C>A (p.Leu12=) rs751186012
NM_001972.4(ELANE):c.36C>G (p.Leu12=)
NM_001972.4(ELANE):c.372C>A (p.Asn124Lys) rs200595736
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp) 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>G (p.Ala131Gly)
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.405G>T (p.Val135=)
NM_001972.4(ELANE):c.410_416del (p.Gln137fs)
NM_001972.4(ELANE):c.411G>C (p.Gln137His)
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.41G>A (p.Cys14Tyr) rs1470888380
NM_001972.4(ELANE):c.435G>C (p.Leu145=) rs992902449
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.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser) rs57246956
NM_001972.4(ELANE):c.453C>T (p.Cys151=) rs1328150231
NM_001972.4(ELANE):c.454C>T (p.Leu152=)
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
NM_001972.4(ELANE):c.45C>G (p.Val15=) rs1210157302
NM_001972.4(ELANE):c.461T>G (p.Met154Arg) rs1429051935
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.498C>T (p.Ala166=) rs2145148773
NM_001972.4(ELANE):c.509A>G (p.Gln170Arg)
NM_001972.4(ELANE):c.513G>T (p.Glu171Asp)
NM_001972.4(ELANE):c.516C>G (p.Leu172=)
NM_001972.4(ELANE):c.51G>T (p.Pro17=) rs1289067999
NM_001972.4(ELANE):c.525G>A (p.Thr175=)
NM_001972.4(ELANE):c.525G>T (p.Thr175=)
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.534G>T (p.Thr178=) rs1036286591
NM_001972.4(ELANE):c.537C>T (p.Ser179=)
NM_001972.4(ELANE):c.537_563del (p.Cys181_Leu189del)
NM_001972.4(ELANE):c.538del (p.Leu180fs)
NM_001972.4(ELANE):c.540C>G (p.Leu180=) rs897624968
NM_001972.4(ELANE):c.542G>A (p.Cys181Tyr)
NM_001972.4(ELANE):c.550A>C (p.Ser184Arg) rs2035668478
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) rs797045009
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.570G>A (p.Val190=)
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser) rs754277797
NM_001972.4(ELANE):c.574_583del (p.Gly192fs) rs2145148969
NM_001972.4(ELANE):c.581A>T (p.Gln194Leu)
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
NM_001972.4(ELANE):c.583G>A (p.Ala195Thr)
NM_001972.4(ELANE):c.583del (p.Ala195fs)
NM_001972.4(ELANE):c.584C>A (p.Ala195Asp)
NM_001972.4(ELANE):c.588C>T (p.Gly196=)
NM_001972.4(ELANE):c.589G>A (p.Val197Ile) rs1471191879
NM_001972.4(ELANE):c.597+10C>A rs201460728
NM_001972.4(ELANE):c.597+14G>A
NM_001972.4(ELANE):c.597+17T>G
NM_001972.4(ELANE):c.597+19C>G
NM_001972.4(ELANE):c.597+1G>A rs1555710005
NM_001972.4(ELANE):c.597+1G>C rs1555710005
NM_001972.4(ELANE):c.597+20C>T rs879254187
NM_001972.4(ELANE):c.597+3A>T rs2145149093
NM_001972.4(ELANE):c.597+4C>T
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.597+5G>C
NM_001972.4(ELANE):c.597+5G>T rs879253882
NM_001972.4(ELANE):c.597+5_597+8del rs2035670462
NM_001972.4(ELANE):c.597C>T (p.Phe199=)
NM_001972.4(ELANE):c.598-17del
NM_001972.4(ELANE):c.598-3C>G rs730880095
NM_001972.4(ELANE):c.598-8C>T rs778083470
NM_001972.4(ELANE):c.602del (p.Asp201fs) rs2035673569
NM_001972.4(ELANE):c.606C>A (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
NM_001972.4(ELANE):c.607G>T (p.Gly203Cys) rs201139487
NM_001972.4(ELANE):c.618G>A (p.Leu206=)
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) rs137854446
NM_001972.4(ELANE):c.618G>T (p.Leu206Phe) rs137854446
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.622T>G (p.Cys208Gly) rs2145149526
NM_001972.4(ELANE):c.623G>T (p.Cys208Phe) rs1226645940
NM_001972.4(ELANE):c.624C>T (p.Cys208=)
NM_001972.4(ELANE):c.634A>G (p.Ile212Val) rs2035674370
NM_001972.4(ELANE):c.636C>A (p.Ile212=)
NM_001972.4(ELANE):c.639C>A (p.His213Gln)
NM_001972.4(ELANE):c.639C>T (p.His213=) rs199532353
NM_001972.4(ELANE):c.639del (p.His213fs)
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) rs1555710089
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.648C>T (p.Ala216=)
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.661G>T (p.Gly221Ter) rs2035675760
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.669C>A (p.Cys223Ter) rs1599294750
NM_001972.4(ELANE):c.66G>A (p.Gly22=) rs748560924
NM_001972.4(ELANE):c.67+20C>T rs1370369907
NM_001972.4(ELANE):c.67+7T>A
NM_001972.4(ELANE):c.67+7T>C
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg) rs780046041
NM_001972.4(ELANE):c.68-14C>T
NM_001972.4(ELANE):c.68-20C>T
NM_001972.4(ELANE):c.68-5C>A
NM_001972.4(ELANE):c.687del (p.Asp230fs) rs2145149748
NM_001972.4(ELANE):c.688G>C (p.Asp230His)
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp) rs2145143878
NM_001972.4(ELANE):c.693C>G (p.Ala231=)
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) rs2035677025
NM_001972.4(ELANE):c.723G>A (p.Trp241Ter) rs2145149815
NM_001972.4(ELANE):c.724A>T (p.Ile242Phe)
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
NM_001972.4(ELANE):c.733_737dup (p.Gln247fs)
NM_001972.4(ELANE):c.735C>T (p.Ile245=)
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.746C>T (p.Ser249Phe) rs201224216
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.768C>T (p.His256=) rs199932636
NM_001972.4(ELANE):c.775G>C (p.Asp259His) rs1408272130
NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)
NM_001972.4(ELANE):c.780G>A (p.Pro260=)
NM_001972.4(ELANE):c.782A>G (p.Asp261Gly)
NM_001972.4(ELANE):c.786G>C (p.Pro262=) rs762273987
NM_001972.4(ELANE):c.789C>T (p.Ala263=) rs201238919
NM_001972.4(ELANE):c.790A>G (p.Ser264Gly)
NM_001972.4(ELANE):c.803G>C (p.Ter268Ser)
NM_001972.4(ELANE):c.81C>T (p.Ala27=) rs2145143896
NM_001972.4(ELANE):c.85G>A (p.Glu29Lys)
NM_001972.4(ELANE):c.91G>A (p.Val31Met) rs2145143909
NM_001972.4(ELANE):c.96G>A (p.Gly32=)
NM_001972.4(ELANE):c.98del (p.Gly33fs)

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.