ClinVar Miner

List of variants in gene ELANE reported as likely benign 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: 126
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HGVS dbSNP gnomAD frequency
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.441C>T (p.Asn147=) rs146878885 0.00022
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.417G>A (p.Pro139=) rs199702100 0.00009
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 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.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.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.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.225-8C>T rs771866084 0.00003
NM_001972.4(ELANE):c.24G>A (p.Ala8=) rs199901033 0.00003
NM_001972.4(ELANE):c.367-7G>A rs201878637 0.00003
NM_001972.4(ELANE):c.627C>T (p.Asn209=) rs201664319 0.00003
NM_001972.4(ELANE):c.108G>A (p.Ala36=) rs886109432 0.00002
NM_001972.4(ELANE):c.219G>A (p.Ala73=) rs780340448 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.168C>T (p.Gly56=) rs753213805 0.00001
NM_001972.4(ELANE):c.243G>T (p.Arg81=) rs768135268 0.00001
NM_001972.4(ELANE):c.345C>T (p.Leu115=) rs1479475108 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.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.600G>A (p.Gly200=) rs144391144 0.00001
NM_001972.4(ELANE):c.63G>T (p.Leu21=) rs779360541 0.00001
NM_001972.4(ELANE):c.702G>A (p.Pro234=) rs202059602 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
NM_001972.4(ELANE):c.102G>T (p.Arg34=) rs1241470202
NM_001972.4(ELANE):c.114C>T (p.Pro38=) rs200245073
NM_001972.4(ELANE):c.120G>A (p.Ala40=)
NM_001972.4(ELANE):c.138C>T (p.Ser46=) rs2145144082
NM_001972.4(ELANE):c.150C>A (p.Arg50=)
NM_001972.4(ELANE):c.210C>T (p.His70=) rs1029080359
NM_001972.4(ELANE):c.213C>T (p.Cys71=) rs1368129967
NM_001972.4(ELANE):c.224+9C>G rs1418775355
NM_001972.4(ELANE):c.224+9C>T rs1418775355
NM_001972.4(ELANE):c.225-16T>C
NM_001972.4(ELANE):c.225-17C>T
NM_001972.4(ELANE):c.225-4G>A rs2145144905
NM_001972.4(ELANE):c.225-6C>T
NM_001972.4(ELANE):c.225-8C>G
NM_001972.4(ELANE):c.237G>T (p.Ala79=) rs1158107493
NM_001972.4(ELANE):c.243G>A (p.Arg81=)
NM_001972.4(ELANE):c.24G>C (p.Ala8=) rs199901033
NM_001972.4(ELANE):c.258C>T (p.Ala86=) rs2145145024
NM_001972.4(ELANE):c.261T>C (p.His87=) rs2145145030
NM_001972.4(ELANE):c.270G>A (p.Ser90=)
NM_001972.4(ELANE):c.282C>T (p.Pro94=)
NM_001972.4(ELANE):c.300C>T (p.Ala100=) rs200002231
NM_001972.4(ELANE):c.315C>T (p.Phe105=)
NM_001972.4(ELANE):c.324C>T (p.Gly108=) rs2145145223
NM_001972.4(ELANE):c.336A>G (p.Val112=)
NM_001972.4(ELANE):c.354C>T (p.Ile118=)
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+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.367-8C>T rs200752339
NM_001972.4(ELANE):c.36C>A (p.Leu12=) rs751186012
NM_001972.4(ELANE):c.36C>G (p.Leu12=)
NM_001972.4(ELANE):c.405G>T (p.Val135=)
NM_001972.4(ELANE):c.435G>C (p.Leu145=) rs992902449
NM_001972.4(ELANE):c.453C>T (p.Cys151=) rs1328150231
NM_001972.4(ELANE):c.454C>T (p.Leu152=)
NM_001972.4(ELANE):c.45C>G (p.Val15=) rs1210157302
NM_001972.4(ELANE):c.498C>T (p.Ala166=) rs2145148773
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.534G>T (p.Thr178=) rs1036286591
NM_001972.4(ELANE):c.537C>T (p.Ser179=)
NM_001972.4(ELANE):c.540C>G (p.Leu180=) rs897624968
NM_001972.4(ELANE):c.588C>T (p.Gly196=)
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+20C>T rs879254187
NM_001972.4(ELANE):c.598-17del
NM_001972.4(ELANE):c.598-8C>T rs778083470
NM_001972.4(ELANE):c.618G>A (p.Leu206=)
NM_001972.4(ELANE):c.624C>T (p.Cys208=)
NM_001972.4(ELANE):c.636C>A (p.Ile212=)
NM_001972.4(ELANE):c.639C>T (p.His213=) rs199532353
NM_001972.4(ELANE):c.648C>T (p.Ala216=)
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.68-14C>T
NM_001972.4(ELANE):c.68-20C>T
NM_001972.4(ELANE):c.68-5C>A
NM_001972.4(ELANE):c.693C>G (p.Ala231=)
NM_001972.4(ELANE):c.735C>T (p.Ile245=)
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216
NM_001972.4(ELANE):c.768C>T (p.His256=) rs199932636
NM_001972.4(ELANE):c.780G>A (p.Pro260=)
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.81C>T (p.Ala27=) rs2145143896
NM_001972.4(ELANE):c.96G>A (p.Gly32=)

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