List of variants in gene SPAST reported by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	rs121908515	0.00521
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	rs142053576	0.00024
NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)	rs1573121594
NM_014946.4(SPAST):c.1091_1092del (p.Arg364fs)	rs1573121790
NM_014946.4(SPAST):c.1174-2A>T	rs1553317018
NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)	rs2148753634
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp)	rs1553318329
NM_014946.4(SPAST):c.1469_1470del (p.Gln490fs)	rs1573157108
NM_014946.4(SPAST):c.1493+2T>A	rs1553318353
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)	rs878854991
NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)	rs1553321269
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)	rs1573186691
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)	rs1553314948

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