ClinVar Miner

List of variants in gene ELANE reported by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
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.578G>A (p.Arg193Gln) rs199659114 0.00002
NM_001972.4(ELANE):c.352A>G (p.Ile118Val) rs1382122842 0.00001
NM_001972.4(ELANE):c.10G>C (p.Gly4Arg)
NM_001972.4(ELANE):c.133G>C (p.Val45Leu)
NM_001972.4(ELANE):c.157C>G (p.His53Asp)
NM_001972.4(ELANE):c.228C>G (p.Asn76Lys) rs746799175
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.308G>T (p.Arg103Leu) rs745455816
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.612C>A (p.Ser204Arg)
NM_001972.4(ELANE):c.742C>T (p.Arg248Cys) rs886038502

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.