ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_001128126.3(AP4S1):c.138+2T>G rs377679827 0.00002

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