List of variants in gene SPAST studied for not specified

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.879G>A (p.Pro293=)	rs145264166	0.00943
NM_014946.4(SPAST):c.1728+16A>G	rs76494041	0.00731
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	rs121908515	0.00521
NM_014946.4(SPAST):c.1493+18G>T	rs189961829	0.00213
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	rs141944844	0.00192
NM_014946.4(SPAST):c.415+12G>A	rs539075273	0.00115
NM_014946.4(SPAST):c.1173+17A>C	rs200640366	0.00092
NM_014946.4(SPAST):c.-41C>T	rs374327295	0.00078
NM_014946.4(SPAST):c.683-9C>T	rs202209866	0.00056
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	rs144594804	0.00031
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	rs142053576	0.00024
NM_014946.4(SPAST):c.1536+17G>T	rs201026422	0.00017
NM_014946.4(SPAST):c.415+17G>T	rs748969302	0.00005
NM_014946.4(SPAST):c.942G>A (p.Leu314=)	rs776121105	0.00005
NM_014946.4(SPAST):c.*11T>C	rs753913367	0.00002
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)	rs372900676	0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)	rs773193617	0.00002
NM_014946.4(SPAST):c.1321+9A>G	rs201349526	0.00001
NM_014946.4(SPAST):c.171G>C (p.Leu57=)	rs1057523187	0.00001
NM_014946.4(SPAST):c.816A>G (p.Leu272=)	rs1239753392	0.00001
NM_014946.4(SPAST):c.1004+3_1004+6del	rs1553315234
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val)	rs1060502231
NM_014946.4(SPAST):c.1076TTC[1] (p.Leu360del)
NM_014946.4(SPAST):c.1120C>T (p.Pro374Ser)	rs1553316810
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)	rs2148753923
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)	rs1553318317
NM_014946.4(SPAST):c.1462_1463insTTA (p.Asn487_Arg488insIle)
NM_014946.4(SPAST):c.1536G>A (p.Glu512=)	rs1553319093
NM_014946.4(SPAST):c.327G>C (p.Pro109=)	rs1033468634
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu)	rs763649847
NM_014946.4(SPAST):c.586+9_586+12del	rs554544808
NM_014946.4(SPAST):c.871-12G>A	rs764275621

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