ClinVar Miner

List of variants in gene ALS2 reported by Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

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Gene type:
ClinVar version:
Total variants: 3
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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.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.4670A>G (p.Glu1557Gly)

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