ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.987+5A>G rs4785691

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