ClinVar Miner

List of variants reported as uncertain significance for SPAST-related motor disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):

Hereditary spastic paraplegia 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys)	rs776114823	0.00006
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)	rs1558331867
NM_014946.4(SPAST):c.1613C>A (p.Ala538Asp)

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