ClinVar Miner

List of variants in gene combination TAPBPL, VAMP1 reported as benign for spastic ataxia

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014231.5(VAMP1):c.130-25T>A rs2534718 0.96882
NM_014231.5(VAMP1):c.*1588T>C rs1045452 0.70161
NM_014231.5(VAMP1):c.252C>A (p.Ala84=) rs2072375 0.27430

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