ClinVar Miner

List of variants in gene SPAST reported as pathogenic by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.32153843_32159343del
NM_014946.4(SPAST):c.1099-1062_1246-1342del
NM_014946.4(SPAST):c.1099-956_1246-1672del
NM_014946.4(SPAST):c.1174-270_1246-1724dup
NM_014946.4(SPAST):c.1246-2897_1493+523dup
NM_014946.4(SPAST):c.1494-1393_1688-466dup
NM_014946.4(SPAST):c.1688-378_1728+1541del
NM_014946.4(SPAST):c.1729-3331_*1641del
NM_014946.4(SPAST):c.1729-884_*1715del
NM_014946.4(SPAST):c.683-1277_870+399del
NM_014946.4(SPAST):c.683-7033_1004+30del
NM_014946.4(SPAST):c.690_1099-4223del
NM_014946.4(SPAST):c.871-368_1098+4142del
Single allele

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