ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001135745.2(ALS2):c.553del (p.Thr185fs) rs386134174
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) rs730882255
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256

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