ClinVar Miner

List of variants studied for complex hereditary spastic paraplegia by Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

Included ClinVar conditions (74):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_025137.4(SPG11):c.1313T>C (p.Leu438Pro)
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776

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