ClinVar Miner

List of variants in gene ALS2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) rs759408917 0.00001
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) rs1355321952 0.00001
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.4004+1G>A rs1690335308 0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) rs1689580631 0.00001
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) rs746255868 0.00001
NC_000002.12:g.201705201del rs1574655402
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.1114-1G>A rs2106080813
NM_020919.4(ALS2):c.1250C>A (p.Ser417Ter)
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)
NM_020919.4(ALS2):c.142C>G (p.Leu48Val)
NM_020919.4(ALS2):c.1471+1G>A rs1693462968
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) rs1553513641
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu) rs2106071765
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) rs763455928
NM_020919.4(ALS2):c.1816-1G>A rs1060503672
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter) rs863225294
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) rs1574748038
NM_020919.4(ALS2):c.2168dup (p.Leu723fs)
NM_020919.4(ALS2):c.2581-1G>C rs1057524355
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.2842-2A>G rs2106009582
NM_020919.4(ALS2):c.3047dup (p.Tyr1017fs)
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro) rs1691183538
NM_020919.4(ALS2):c.3248+1G>C
NM_020919.4(ALS2):c.3248+1G>T rs2106005949
NM_020919.4(ALS2):c.3348-1G>A rs2106001462
NM_020919.4(ALS2):c.3513-2A>T
NM_020919.4(ALS2):c.3516_3517delinsT (p.Glu1173fs)
NM_020919.4(ALS2):c.3624+1G>A rs2105998730
NM_020919.4(ALS2):c.368G>A (p.Cys123Tyr) rs1057523547
NM_020919.4(ALS2):c.3703-2A>G rs1690532210
NM_020919.4(ALS2):c.3893del (p.Asp1298fs)
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
NM_020919.4(ALS2):c.4123-2A>G
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020919.4(ALS2):c.4403+2T>A
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.4670A>G (p.Glu1557Gly)
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) rs1689584119
NM_020919.4(ALS2):c.4838+1G>A
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779
NM_020919.4(ALS2):c.691C>T (p.Arg231Ter) rs1340248169
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) rs1064793583

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.