ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000002.11:g.32353207_32359908dup
NC_000002.11:g.32358735_32362780dup
NC_000002.11:g.32365580_32371821dup
NM_014946.3(SPAST):c.-112_415+1779del
NM_014946.3(SPAST):c.1688-378_1728+1541del
NM_014946.3(SPAST):c.1729-884_*1715del
NM_014946.3(SPAST):c.683-1277_870+399del
Single allele

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