List of variants in gene SPAST reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.1245+1G>A	rs875989878	0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	rs863224923	0.00001
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	rs878854990
NM_014946.4(SPAST):c.1413+2dup	rs587777756
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)	rs121908518
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)	rs1680185365
NM_014946.4(SPAST):c.415+1G>C	rs1057521135

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