List of variants studied for hereditary spastic paraplegia by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala)	rs757747386	0.00003
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn)	rs760261849	0.00001
GRCh37/hg19 Xq22.2(chrX:102967297-103038606)x0
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0
NC_000002.12:g.32063148_32067182del
NC_000002.12:g.32153843_32159343del
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)	rs1064795534
NM_014946.4(SPAST):c.-112_415+1779del
NM_014946.4(SPAST):c.1099-1062_1246-1342del
NM_014946.4(SPAST):c.1099-956_1246-1672del
NM_014946.4(SPAST):c.1174-270_1246-1724dup
NM_014946.4(SPAST):c.1246-2897_1493+523dup
NM_014946.4(SPAST):c.1494-1393_1688-466dup
NM_014946.4(SPAST):c.1688-378_1728+1541del
NM_014946.4(SPAST):c.1729-3331_*1641del
NM_014946.4(SPAST):c.1729-884_*1715del
NM_014946.4(SPAST):c.683-1277_870+399del
NM_014946.4(SPAST):c.683-7033_1004+30del
NM_014946.4(SPAST):c.690_1099-4223del
NM_014946.4(SPAST):c.871-368_1098+4142del
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser)	rs1925470890
Single allele

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