ClinVar Miner

List of variants studied for hereditary spastic paraplegia 4 by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (1):

Hereditary spastic paraplegia 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	rs121908511
NM_014946.4(SPAST):c.1616+1G>A	rs1553319327
NM_014946.4(SPAST):c.1664A>C (p.Asp555Ala)

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