ClinVar Miner

List of variants in gene ALS2 reported by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_020919.4(ALS2):c.4004+25C>T rs3219167 0.81578
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_020919.4(ALS2):c.1114-27A>G rs28729117 0.16122
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_020919.4(ALS2):c.2841+48del rs141560438 0.03404
NM_020919.4(ALS2):c.2842-16G>A rs9288322 0.03008
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_020919.4(ALS2):c.4004+34A>G rs746226743 0.00002
NM_020919.4(ALS2):c.3248+50G>A rs143317076

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.