ClinVar Miner

List of variants reported as pathogenic for hereditary spastic paraplegia 52 by OMIM

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)	rs387906970
NM_001128126.3(AP4S1):c.138+3_138+6del	rs876661295

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