ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis type 1; Spastic tetraplegia and axial hypotonia, progressive

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.363T>G (p.His121Gln)
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu) rs1555836170

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