ClinVar Miner

List of variants in gene ALS2 reported as likely pathogenic for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) rs759408917 0.00001
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489 0.00001
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) rs1689580631 0.00001
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)
NM_020919.4(ALS2):c.142C>G (p.Leu48Val)
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.2104G>T (p.Glu702Ter) rs1574748038
NM_020919.4(ALS2):c.2168dup (p.Leu723fs)
NM_020919.4(ALS2):c.3624+1G>A rs2105998730
NM_020919.4(ALS2):c.3893del (p.Asp1298fs)
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) rs1689584119
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779

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