ClinVar Miner

List of variants in gene ELANE reported as not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.*2A>G rs1599294997
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) rs28931611
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)

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