ClinVar Miner

List of variants in gene SPG7 reported as pathogenic by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454

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