ClinVar Miner

List of variants in gene ALS2 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) rs199751225 0.00046
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_020919.4(ALS2):c.1114-7A>G rs377341424 0.00006
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) rs568716023 0.00006
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) rs200990057 0.00004
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) rs745544432 0.00004
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) rs569869571 0.00002
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly) rs778099581 0.00002
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser) rs1693481434 0.00001
NM_020919.4(ALS2):c.146G>T (p.Gly49Val) rs1461116724 0.00001
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) rs770565853 0.00001
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del)
NM_020919.4(ALS2):c.1737+7G>A
NM_020919.4(ALS2):c.1738-4A>G
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) rs61757690
NM_020919.4(ALS2):c.2180G>A (p.Gly727Asp)
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) rs2106090105
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) rs773628251
NM_020919.4(ALS2):c.2919C>G (p.Gly973=) rs2106008091
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) rs776807292
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) rs2106003724
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly)
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=) rs2105982146
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=) rs1190350825
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) rs1420843762
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=)
NM_020919.4(ALS2):c.4403+4A>G rs1559031941
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn) rs2106102596
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg) rs1693768928

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.