ClinVar Miner

List of variants in gene ELANE reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
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.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.*15G>T rs961341040 0.00004
NM_001972.4(ELANE):c.268T>C (p.Ser90Pro) rs753965718 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.450G>A (p.Gln150=) rs761830204 0.00001
NM_001972.4(ELANE):c.367-16G>A rs1555709863
NM_001972.4(ELANE):c.36C>A (p.Leu12=) rs751186012
NM_001972.4(ELANE):c.597+20C>T rs879254187
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.742C>T (p.Arg248Cys) rs886038502
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216

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