ClinVar Miner

List of variants in gene SPAST reported as uncertain significance for Spastic paraplegia

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_014946.4(SPAST):c.109G>T (p.Gly37Trp) rs771455657
NM_014946.4(SPAST):c.1174-14T>A rs2148746281
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile) rs1553319537
NM_014946.4(SPAST):c.1691_1702del
NM_014946.4(SPAST):c.1699G>A (p.Glu567Lys) rs2148762782
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn) rs2148769328
NM_014946.4(SPAST):c.352G>C (p.Val118Leu) rs1676413433
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala) rs770141489
NM_014946.4(SPAST):c.818C>G (p.Ser273Cys) rs767688964
NM_014946.4(SPAST):c.830G>T (p.Gly277Val) rs1678761963
NM_014946.4(SPAST):c.936A>C (p.Lys312Asn) rs1465167029
NM_014946.4(SPAST):c.950T>C (p.Phe317Ser) rs759832933

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