List of variants reported as likely pathogenic for hereditary spastic paraplegia by Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)	rs387907259	0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)	rs1012819766	0.00001
NM_004820.5(CYP7B1):c.1162C>G (p.Arg388Gly)
NM_004984.4(KIF5A):c.129+1G>A
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp)	rs2140162605
NM_007175.8(ERLIN2):c.502G>A (p.Val168Met)	rs1803173923
NM_016525.5(UBAP1):c.487G>T (p.Glu163Ter)
NM_032756.4(HPDL):c.1066G>C (p.Ala356Pro)

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