ClinVar Miner

List of variants in gene ELANE studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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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.171C>T (p.Ala57=) rs201224981 0.00039
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
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.519C>T (p.Asn173=) rs200393776 0.00006
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg) rs377698556 0.00005
NM_001972.4(ELANE):c.*15G>T rs961341040 0.00004
NM_001972.4(ELANE):c.268T>C (p.Ser90Pro) rs753965718 0.00004
NM_001972.4(ELANE):c.456G>A (p.Leu152=) rs200599820 0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met) rs367663236 0.00004
NM_001972.4(ELANE):c.21C>T (p.Leu7=) rs200666143 0.00003
NM_001972.4(ELANE):c.627C>T (p.Asn209=) rs201664319 0.00003
NM_001972.4(ELANE):c.223G>A (p.Val75Ile) rs200998348 0.00002
NM_001972.4(ELANE):c.556G>A (p.Val186Ile) rs140642538 0.00002
NM_001972.4(ELANE):c.126C>T (p.Pro42=) rs587780933 0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) rs568474579 0.00001
NM_001972.4(ELANE):c.352A>G (p.Ile118Val) rs1382122842 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.300dup (p.Val101fs) rs2145145158
NM_001972.4(ELANE):c.338A>T (p.Asn113Ile) rs773808780
NM_001972.4(ELANE):c.366+7C>T rs1258334813
NM_001972.4(ELANE):c.367-16G>A rs1555709863
NM_001972.4(ELANE):c.36C>A (p.Leu12=) rs751186012
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.418G>T (p.Ala140Ser)
NM_001972.4(ELANE):c.597+20C>T rs879254187
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.60G>A (p.Leu20=) rs755546229
NM_001972.4(ELANE):c.641G>T (p.Gly214Val) rs1555710089
NM_001972.4(ELANE):c.68-12G>T rs1380161253
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661
NM_001972.4(ELANE):c.742C>T (p.Arg248Cys) rs886038502
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216
NM_001972.4(ELANE):c.768C>T (p.His256=) rs199932636

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