ClinVar Miner

List of variants in gene SOD1 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) rs121912459 0.00002
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg) rs1568810758
NM_000454.5(SOD1):c.355G>C (p.Val119Leu) rs1235629842
NM_000454.5(SOD1):c.357+3A>G
NM_000454.5(SOD1):c.374A>C (p.Asp125Ala) rs1568811366
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360

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