List of variants studied for hereditary spastic paraplegia by Genetic Services Laboratory, University of Chicago

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	rs376478015	0.00009
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	rs752623413	0.00006
NM_003119.4(SPG7):c.988-1G>A	rs748309520	0.00001
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)	rs1553257236
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)	rs797045244
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)	rs587783179
NM_001253852.3(AP4B1):c.338+5G>A	rs1019204290
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)	rs368373840
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	rs864622507
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)	rs797046003
NM_004722.4(AP4M1):c.32del (p.Lys11fs)	rs797045249
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA	rs1554517382

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