List of variants studied for hereditary spastic paraplegia by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser)	rs578101513	0.00008
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys)	rs754594403	0.00001
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln)	rs778734781	0.00001
NM_001199753.2(CPT1C):c.1081C>T (p.Gln361Ter)
NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys)	rs569322551
NM_005186.4(CAPN1):c.181_182insC (p.Phe61fs)
NM_006612.6(KIF1C):c.647G>A (p.Arg216His)
NM_020435.4(GJC2):c.184G>C (p.Gly62Arg)
NM_020944.3(GBA2):c.2506-2A>G
NM_024306.5(FA2H):c.363+2T>C
NM_133443.4(GPT2):c.487G>A (p.Val163Met)	rs1452698180

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