List of variants in gene ELANE reported as likely benign for leukopenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 127

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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.490G>C (p.Gly164Arg)	rs112990855	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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