ClinVar Miner

List of variants in gene ALS2 reported as likely pathogenic by Cirak Lab, University Hospital Cologne

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.1471+1G>A rs1693462968
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) rs763455928
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro) rs1691183538
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138

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